Nanopublications LDF server

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

• NP2415.RA0lgtfNhShm_iX9t32EJ6AMg6fha4vQifCiAEhW-XeFo130_assertion description "[A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2415.RA0lgtfNhShm_iX9t32EJ6AMg6fha4vQifCiAEhW-XeFo130_provenance.
• NP2419.RA95uLnvl8ovZobS_TdZr4TnHZP-gsXPy-cOqFiZjor_Y130_assertion description "[A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2419.RA95uLnvl8ovZobS_TdZr4TnHZP-gsXPy-cOqFiZjor_Y130_provenance.
• NP2420.RA3IRYMitAYSBBM54sGZOXTVyzisFBINZKi5L9c8I3zUY130_assertion description "[New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2420.RA3IRYMitAYSBBM54sGZOXTVyzisFBINZKi5L9c8I3zUY130_provenance.
• NP2431.RA-gyBmxrGSbndczkJitNloxHTtqJYX1KiZFTefHToSDY130_assertion description "[Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2431.RA-gyBmxrGSbndczkJitNloxHTtqJYX1KiZFTefHToSDY130_provenance.
• NP2433.RA-ynBvcSoIX10QziAf4hscBKXM0KIKXlBXBMVy6eKBGA130_assertion description "[Exome sequencing identifies FUS mutations as a cause of essential tremor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2433.RA-ynBvcSoIX10QziAf4hscBKXM0KIKXlBXBMVy6eKBGA130_provenance.
• NP2442.RA2f71JJl6_JXyZT_5lp5VW2DbzjWf0TFp13I4puS0Ih4130_assertion description "[Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2442.RA2f71JJl6_JXyZT_5lp5VW2DbzjWf0TFp13I4puS0Ih4130_provenance.
• NP2443.RA46OE-CMNwojb-gV7yvKsdoqS3CO5aTEHpvIyqIlxqZE130_assertion description "[Mutations in the frizzled-4 gene (FZD4) have recently been associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long arm of chromosome 11.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2443.RA46OE-CMNwojb-gV7yvKsdoqS3CO5aTEHpvIyqIlxqZE130_provenance.
• NP2446.RA900rBPoRQYxQGFeVa7aLvLDrz5Pt2IYGck6IduR_VlY130_assertion description "[Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2446.RA900rBPoRQYxQGFeVa7aLvLDrz5Pt2IYGck6IduR_VlY130_provenance.
• NP2453.RA5Jax-hXULnmqP2sOrTFTWwb8QG-vkn60GoVYIZ_rA_M130_assertion description "[Digenic mutations in severe congenital neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2453.RA5Jax-hXULnmqP2sOrTFTWwb8QG-vkn60GoVYIZ_rA_M130_provenance.
• NP2461.RAxgTjJKngvkHg-tlz3_9HqAhc3OFBBwSM8itDkelnjIw130_assertion description "[Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2461.RAxgTjJKngvkHg-tlz3_9HqAhc3OFBBwSM8itDkelnjIw130_provenance.
• NP2467.RA13Bj-QRA0O7a0WCZ9BlAdMbnvLHALreNirGJaiAE_-4130_assertion description "[Glycogen storage disease type II (Pompe disease) is inherited by autosomal recessive transmission and caused by a deficiency of acid alpha-glucosidase (GAA), resulting in impaired degradation and lysosomal accumulation of glycogen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2467.RA13Bj-QRA0O7a0WCZ9BlAdMbnvLHALreNirGJaiAE_-4130_provenance.
• NP2468.RA7cfK5OEaSaSUL2cG7JpDAQsfFLW3jqXGenxphDKqzW8130_assertion description "[Glycogenosis type II (GSDII) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2468.RA7cfK5OEaSaSUL2cG7JpDAQsfFLW3jqXGenxphDKqzW8130_provenance.
• NP2469.RAwuMWjEb3WZcWRKdZgO9rvHSc69J3Cpdmx5cUnvUgkLo130_assertion description "[To characterize the phenotypes of patients with juvenile and adult-onset acid maltase deficiency (AMD) in the French population and correlate them with genetic defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2469.RAwuMWjEb3WZcWRKdZgO9rvHSc69J3Cpdmx5cUnvUgkLo130_provenance.
• NP2470.RA4_95ki2IRnzp1wBRNuD_BT8H_aH_c813-FEmEF7_EUs130_assertion description "[Glycogen Storage Disease type II (GSDII) is caused by the deficiency of lysosomal alpha-glucosidase (acid maltase).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2470.RA4_95ki2IRnzp1wBRNuD_BT8H_aH_c813-FEmEF7_EUs130_provenance.
• NP2473.RAxjZfYFaCa4jAAaEv1SN36V1oUEy39OUVRBSaDmp-nZ8130_assertion description "[Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2473.RAxjZfYFaCa4jAAaEv1SN36V1oUEy39OUVRBSaDmp-nZ8130_provenance.
• NP2476.RA1LpFl8hKhvQV3b_UV9OBZxrgzssqAgb6gyWuJ2Da8-Q130_assertion description "[Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2476.RA1LpFl8hKhvQV3b_UV9OBZxrgzssqAgb6gyWuJ2Da8-Q130_provenance.
• NP2480.RA0cy4BiXSP56krPF-xQuT5XSSb_YcuxQQ0W6U4A3rdI8130_assertion description "[First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2480.RA0cy4BiXSP56krPF-xQuT5XSSb_YcuxQQ0W6U4A3rdI8130_provenance.
• NP2481.RAyV7BIwlY-Kxi1-NdRyUpeUKNe-oqEWPfF5JVhmRF4bk130_assertion description "[A novel GABRG2 mutation associated with febrile seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2481.RAyV7BIwlY-Kxi1-NdRyUpeUKNe-oqEWPfF5JVhmRF4bk130_provenance.
• NP2496.RA9GBsXENAVyek4D6kTBcb5hbaZNbq1cZIcVRtlSzBRhY130_assertion description "[Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2496.RA9GBsXENAVyek4D6kTBcb5hbaZNbq1cZIcVRtlSzBRhY130_provenance.
• NP2505.RAxX7wx6Vdm88tiTXEd7skMZpIKCGUI_hbPY7WQqi5jVY130_assertion description "[This heterogeneity in GALNS gene mutations accounts for an extensive clinical variability within MPS IVA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2505.RAxX7wx6Vdm88tiTXEd7skMZpIKCGUI_hbPY7WQqi5jVY130_provenance.
• NP2507.RAzLr-rk8QY9WXrHTiSoH6ryJD-Rb1xgA57AOPpfB-hAY130_assertion description "[Two of these inactivating GALNT12 mutations were identified as acquired somatic mutations in a set of 30 microsatellite stable colon tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2507.RAzLr-rk8QY9WXrHTiSoH6ryJD-Rb1xgA57AOPpfB-hAY130_provenance.
• NP2514.RA8e0krJTeUqOR3xMYanEJKAbhLNLPZA-ZOJeMyJLV6cs130_assertion description "[We report here molecular analysis of 16 unrelated Turkish galactosemia index cases without GALT activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2514.RA8e0krJTeUqOR3xMYanEJKAbhLNLPZA-ZOJeMyJLV6cs130_provenance.
• NP2515.RA0qkMSli_saNq3XSm7L7hnP482wAqz3U15MDpwMlGEvE130_assertion description "[Classical galactosaemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is characterized by acute symptoms of hepatocellular dysfunction, sepsis, cataracts and failure to thrive.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2515.RA0qkMSli_saNq3XSm7L7hnP482wAqz3U15MDpwMlGEvE130_provenance.
• NP2518.RA_2I1fFIZya6Pc0YZ5PBuNQaG-pPCejoiSWTXO37THAg130_assertion description "[Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2518.RA_2I1fFIZya6Pc0YZ5PBuNQaG-pPCejoiSWTXO37THAg130_provenance.
• NP2530.RA3w6Ou7bVnx4FVWzTdABHLeGa2vvVl-UxajXRFMsgV60130_assertion description "[Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2530.RA3w6Ou7bVnx4FVWzTdABHLeGa2vvVl-UxajXRFMsgV60130_provenance.
• NP2535.RA-19eL4vxaulgCS5KrjJ2St5yXxJqTcaVsyYsiuQBOHE130_assertion description "[Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2535.RA-19eL4vxaulgCS5KrjJ2St5yXxJqTcaVsyYsiuQBOHE130_provenance.
• NP2537.RA45IFNq1wkvlvT8fFqnPu6SbYCf7ECx_6IaHRkuPh4Iw130_assertion description "[Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2537.RA45IFNq1wkvlvT8fFqnPu6SbYCf7ECx_6IaHRkuPh4Iw130_provenance.
• NP2539.RA7tvzu82SCPfIOj3HqKW_xr4Yc3j3px3ZmzY7KY4ZEvE130_assertion description "[GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2539.RA7tvzu82SCPfIOj3HqKW_xr4Yc3j3px3ZmzY7KY4ZEvE130_provenance.
• NP2540.RA3miruzUJ78muIUQ6Zq4cKEn_BqYumo078lWmiNc3ANM130_assertion description "[Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2540.RA3miruzUJ78muIUQ6Zq4cKEn_BqYumo078lWmiNc3ANM130_provenance.
• NP2543.RA3oEXxAvETYY1BIUnukWDDylyz0Eujgi3Kug7JawxgA4130_assertion description "[A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2543.RA3oEXxAvETYY1BIUnukWDDylyz0Eujgi3Kug7JawxgA4130_provenance.
• NP2547.RAzONSZ23z5BRHOaEthShgvpzZ77Z_yhpd6XZ9P5pUKSE130_assertion description "[A novel GATA4 mutation responsible for congenital ventricular septal defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2547.RAzONSZ23z5BRHOaEthShgvpzZ77Z_yhpd6XZ9P5pUKSE130_provenance.
• NP2558.RA4Q26z5nTYKXMZwsz8qkPJ2_2Yxqnq5xVpEOveN79v5k130_assertion description "[Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2558.RA4Q26z5nTYKXMZwsz8qkPJ2_2Yxqnq5xVpEOveN79v5k130_provenance.
• NP2563.RA4Y2rARJwd2wC-h0etyR_4VDXDE7trrKxMV1xQ7yoWY4130_assertion description "[The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2563.RA4Y2rARJwd2wC-h0etyR_4VDXDE7trrKxMV1xQ7yoWY4130_provenance.
• NP2568.RA6aRNvEOxIpIpAey0-cM1TxmkUnn6KCFeCfwTzuOvhUo130_assertion description "[A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2568.RA6aRNvEOxIpIpAey0-cM1TxmkUnn6KCFeCfwTzuOvhUo130_provenance.
• NP2569.RAzF7VI30IWD8F_gqlo31ri02qn3NmqZwnu2gh6WSUgOo130_assertion description "[Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2569.RAzF7VI30IWD8F_gqlo31ri02qn3NmqZwnu2gh6WSUgOo130_provenance.
• NP2576.RA7mOADrQFXd6JiFWCWLYXvPzytkxJxSWGCuy7ehplKQ8130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2576.RA7mOADrQFXd6JiFWCWLYXvPzytkxJxSWGCuy7ehplKQ8130_provenance.
• NP2583.RA5RVIUGa6S-1_mUS1xc6kx7q3M1KC1eGtXOlSK72ZtjE130_assertion description "[Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2583.RA5RVIUGa6S-1_mUS1xc6kx7q3M1KC1eGtXOlSK72ZtjE130_provenance.
• NP2586.RA14_nsLpTWnnegQLOkhIX8HF_HHwhUDYuWHMtcYboYdM130_assertion description "[Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2586.RA14_nsLpTWnnegQLOkhIX8HF_HHwhUDYuWHMtcYboYdM130_provenance.
• NP2591.RA6-_2iKEy7Gv-WjcEscb0Fj3D6qJYuZ9FS-3tWYg_1Ck130_assertion description "[GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2591.RA6-_2iKEy7Gv-WjcEscb0Fj3D6qJYuZ9FS-3tWYg_1Ck130_provenance.
• NP2594.RA4I85-lqH7OxUufaiI5Oha3k0n9VA5kGDCky-7RVtRuw130_assertion description "[Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2594.RA4I85-lqH7OxUufaiI5Oha3k0n9VA5kGDCky-7RVtRuw130_provenance.
• NP2597.RA2ygejIcGz5vxJdJpcXtTRXXNg1jjUnE1kiiRtR0sk6Q130_assertion description "[Neonatal diabetes mellitus due to complete glucokinase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2597.RA2ygejIcGz5vxJdJpcXtTRXXNg1jjUnE1kiiRtR0sk6Q130_provenance.
• NP2599.RA2JJhPrGyF5sbY-dj3Qv00W0EjDwGOS3r6h9vuNTUwus130_assertion description "[Mutations in the glucokinase gene of the fetus result in reduced birth weight.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2599.RA2JJhPrGyF5sbY-dj3Qv00W0EjDwGOS3r6h9vuNTUwus130_provenance.
• NP2600.RA32nZjkP9MbWMoVODr1szuXuv-2NTvuA9dmJREjg5ffg130_assertion description "[Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2600.RA32nZjkP9MbWMoVODr1szuXuv-2NTvuA9dmJREjg5ffg130_provenance.
• NP2601.RA1E6H8ftnapuR6itmVsFOAq-bxXhCJR0TZ8IFrpv-xYA130_assertion description "[Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2601.RA1E6H8ftnapuR6itmVsFOAq-bxXhCJR0TZ8IFrpv-xYA130_provenance.
• NP2610.RA5RnfFtds6oRaBzH416mSvuZ6gipt_pHOLmEOble7kpQ130_assertion description "[CMT4A: identification of a Hispanic GDAP1 founder mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2610.RA5RnfFtds6oRaBzH416mSvuZ6gipt_pHOLmEOble7kpQ130_provenance.
• NP2616.RA4E27Q08Fcz55s1SFjreC-joRAl1nQ8rph4NSYUsUX1k130_assertion description "[Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2616.RA4E27Q08Fcz55s1SFjreC-joRAl1nQ8rph4NSYUsUX1k130_provenance.
• NP2619.RA7W7_Mitm8VuWojcYN6Tq127M26M1o2x6lRre6IntX-U130_assertion description "[Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2619.RA7W7_Mitm8VuWojcYN6Tq127M26M1o2x6lRre6IntX-U130_provenance.
• NP2623.RAymUUJ6fggdu0Lbs_kKnkBDAcKjdslbjqjl-9N8vOJuQ130_assertion description "[We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2623.RAymUUJ6fggdu0Lbs_kKnkBDAcKjdslbjqjl-9N8vOJuQ130_provenance.
• NP2642.RA92f7plveM6YTouqZzAH7XuQrCe513laPlKO6VgJdX1Y130_assertion description "[A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2642.RA92f7plveM6YTouqZzAH7XuQrCe513laPlKO6VgJdX1Y130_provenance.
• NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_assertion description "[The recent discovery of heterozygous de novo mutations in the glial fibrillary acidic protein (GFAP) gene as the cause of infantile and juvenile Alexander disease has shed new light on the long-standing debate whether the adult subtype has the same etiology as infantile and juvenile Alexander disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_provenance.
• NP2646.RA60LISYaRoXPberMmw6JBdjg570-RApcLdTUtf0YP5PM130_assertion description "[The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2646.RA60LISYaRoXPberMmw6JBdjg570-RApcLdTUtf0YP5PM130_provenance.
• NP2658.RAwy3mCmmbgpKmK3rJEN0mlDsvL4_syuN8bYLzq35hhYg130_assertion description "[Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2658.RAwy3mCmmbgpKmK3rJEN0mlDsvL4_syuN8bYLzq35hhYg130_provenance.
• NP2659.RA--Uik5mE16rYzfOwUmz-WShNyNcXfDiwaoGRkPln6oU130_assertion description "[Biologically inactive growth hormone caused by an amino acid substitution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2659.RA--Uik5mE16rYzfOwUmz-WShNyNcXfDiwaoGRkPln6oU130_provenance.
• NP2667.RAxdm1d4m6VaYV5YNaX0YFo9HBLC2tVS206VeLrtgp3y8130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2667.RAxdm1d4m6VaYV5YNaX0YFo9HBLC2tVS206VeLrtgp3y8130_provenance.
• NP2669.RA2g6k07KJHoxxXURO6ee42BRTwiempOgAoXcz00003rQ130_assertion description "[Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2669.RA2g6k07KJHoxxXURO6ee42BRTwiempOgAoXcz00003rQ130_provenance.
• NP2670.RA_LaGOAmqEbZqffGjhRzbt2kFEedxpyQpnTtWoMyI-jU130_assertion description "[Characterization of single-nucleotide polymorphisms in coding regions of human genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2670.RA_LaGOAmqEbZqffGjhRzbt2kFEedxpyQpnTtWoMyI-jU130_provenance.
• NP2673.RA4mKEG4zK_m6VuZ-5kO0KTqegsag9X3BUeMEf-EFhFM0130_assertion description "[Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2673.RA4mKEG4zK_m6VuZ-5kO0KTqegsag9X3BUeMEf-EFhFM0130_provenance.
• NP2674.RA8ROiG5j-IskvGl8cyRXUbXCcCrkHou3tJNvqo0hgkE4130_assertion description "[The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2674.RA8ROiG5j-IskvGl8cyRXUbXCcCrkHou3tJNvqo0hgkE4130_provenance.
• NP2675.RA19esSg4Od0wTtSRZZMwLAQmB_ys9o4v8EJPlUTc_cF8130_assertion description "[Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2675.RA19esSg4Od0wTtSRZZMwLAQmB_ys9o4v8EJPlUTc_cF8130_provenance.
• NP2678.RA9w1CCI-w8F-O4F4FkSsU3KdVRMAuheiDut6LgBToXdc130_assertion description "[Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2678.RA9w1CCI-w8F-O4F4FkSsU3KdVRMAuheiDut6LgBToXdc130_provenance.
• NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_assertion description "[A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2686.RA2BMMzRCAlDWGPntr7hmOOV0B2wdpyAr-55ZDIVpnwfc130_provenance.
• NP2691.RA2-YdK28w4-ptL-M7eybE_is1nSt1bpQKl0Dx9K5vV7w130_assertion description "[Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2691.RA2-YdK28w4-ptL-M7eybE_is1nSt1bpQKl0Dx9K5vV7w130_provenance.
• NP2696.RA2_MgM_qruJ3MIRL_ft0LudwDegJTgJ-2Wa-Io1UxRUg130_assertion description "[A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2696.RA2_MgM_qruJ3MIRL_ft0LudwDegJTgJ-2Wa-Io1UxRUg130_provenance.
• NP2698.RA-7CjO0SCE9FG1neqYEoIZXx5KLX1JDRi0n5Q91aISIw130_assertion description "[Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2698.RA-7CjO0SCE9FG1neqYEoIZXx5KLX1JDRi0n5Q91aISIw130_provenance.
• NP2701.RAz_1_MEhuEI-3noDnaog9eJsiverkFl_xQtcV33rp_CY130_assertion description "[Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2701.RAz_1_MEhuEI-3noDnaog9eJsiverkFl_xQtcV33rp_CY130_provenance.
• NP2706.RAzO-MZFlXDVS4XWipkplhutGVmUvmyMOHbJHxdwQ9Ju4130_assertion description "[Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2706.RAzO-MZFlXDVS4XWipkplhutGVmUvmyMOHbJHxdwQ9Ju4130_provenance.
• NP2712.RAx86to-KhwsPItsV7kdDLdJP0-iwUoEmkToX5-vZk94w130_assertion description "[Mutations in GJB1, the gene encoding the gap junction protein connexin32 (Cx32), cause X-linked Charcot-Marie-Tooth disease (CMTX).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2712.RAx86to-KhwsPItsV7kdDLdJP0-iwUoEmkToX5-vZk94w130_provenance.
• NP2715.RA73uPidAUUE4QC0zVdr96snp5yDC9O4OOtGaBRRNP-3E130_assertion description "[X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2715.RA73uPidAUUE4QC0zVdr96snp5yDC9O4OOtGaBRRNP-3E130_provenance.
• NP2716.RA8064ipwQ6UqasvTZydf6LRNUUu9D64ltT6LpuBEe2TA130_assertion description "[Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2716.RA8064ipwQ6UqasvTZydf6LRNUUu9D64ltT6LpuBEe2TA130_provenance.
• NP2721.RAzrKwbinkDdl8eT938Dd_IWOyYsNw6F37unWhfvLqa_0130_assertion description "[A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2721.RAzrKwbinkDdl8eT938Dd_IWOyYsNw6F37unWhfvLqa_0130_provenance.
• NP2723.RA_hHdBN6RrsooMzO-4MWGP0Ja2APJ1mMJ0wGU79xkeV0130_assertion description "[Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2723.RA_hHdBN6RrsooMzO-4MWGP0Ja2APJ1mMJ0wGU79xkeV0130_provenance.
• NP2739.RA7Zjg_rXkmAjD0qpKKSifouthSREIjfcsqfDu5EySf2M130_assertion description "[Recently, a new mutation, p.G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2739.RA7Zjg_rXkmAjD0qpKKSifouthSREIjfcsqfDu5EySf2M130_provenance.
• NP2740.RA8QUDP93Chsasmk53RnVOuJ2jxd-0jG_fWPOzdgZ9HvM130_assertion description "[Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2740.RA8QUDP93Chsasmk53RnVOuJ2jxd-0jG_fWPOzdgZ9HvM130_provenance.
• NP2754.RA_y4F5OqX6UVJxkgtz0HZEmGRCumbzR6XPJizD7PavHs130_assertion description "[Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2754.RA_y4F5OqX6UVJxkgtz0HZEmGRCumbzR6XPJizD7PavHs130_provenance.
• NP2755.RAyEOR-HWHjpUBJdyCfqjhRthyd-dtvKG4wZh4aLVbP2w130_assertion description "[GJC2 missense mutations cause human lymphedema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2755.RAyEOR-HWHjpUBJdyCfqjhRthyd-dtvKG4wZh4aLVbP2w130_provenance.
• NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_assertion description "[Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2760.RA_g2_ljKo1UlvFT9Lk8tpnnMd2XtMy3HHzR62eSt7Du8130_provenance.
• NP2762.RA0TCJytNAVfp6b0uHsldJaBpZSuhSOW8_i-mbs8LI60U130_assertion description "[Fabry disease is an X-linked disease caused by a defective lysosomal enzyme, alpha-galactosidase A, and characterized by skin lesions and multiorgan involvement, including kidney, heart, and the central nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2762.RA0TCJytNAVfp6b0uHsldJaBpZSuhSOW8_i-mbs8LI60U130_provenance.
• NP2763.RAzYcFD8T9NNB_AJ2VmLu5nfUiadCh_AuaW1yOJdz5SFg130_assertion description "[Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2763.RAzYcFD8T9NNB_AJ2VmLu5nfUiadCh_AuaW1yOJdz5SFg130_provenance.
• NP2770.RA6hsEnwUqDCC8RNfkUkJ7Xh4WH1MlXnJgZR7FtBAc41E130_assertion description "[Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2770.RA6hsEnwUqDCC8RNfkUkJ7Xh4WH1MlXnJgZR7FtBAc41E130_provenance.
• NP2778.RA0kS6HEgB3YaH2Ylpi1M9mUeFbEOpmW_d5EbttrgoznQ130_assertion description "[Human beta-galactosidase gene mutations in morquio B disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2778.RA0kS6HEgB3YaH2Ylpi1M9mUeFbEOpmW_d5EbttrgoznQ130_provenance.
• NP2780.RAwku9g6_1ID5kYSYVrKbkAhUvFvDJhDxEKuT5_6k-3eM130_assertion description "[GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2780.RAwku9g6_1ID5kYSYVrKbkAhUvFvDJhDxEKuT5_6k-3eM130_provenance.
• NP2785.RAxnYrtXpHJgpc7-Z9imJjPYcaZlLx5H74iITfecMkqzQ130_assertion description "[Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2785.RAxnYrtXpHJgpc7-Z9imJjPYcaZlLx5H74iITfecMkqzQ130_provenance.
• NP2789.RA6gzrK3wJgjI55HNyAiBDM55W16axZ-mp0dGc6NsmYaA130_assertion description "[Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2789.RA6gzrK3wJgjI55HNyAiBDM55W16axZ-mp0dGc6NsmYaA130_provenance.
• NP2790.RA5Ho35LB_ERohoKxQHivCxNRUIdoVz-xwT6qrIE_gmQE130_assertion description "[Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2790.RA5Ho35LB_ERohoKxQHivCxNRUIdoVz-xwT6qrIE_gmQE130_provenance.
• NP2796.RA4xMxFgQKeC_YdPSnYNCzCwMWO-TyhvXT_vgFSe_4NSk130_assertion description "[Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2796.RA4xMxFgQKeC_YdPSnYNCzCwMWO-TyhvXT_vgFSe_4NSk130_provenance.
• NP2802.RA_WPCnhSfzZ-cJpL22SLysu9uKxgMcyRDh6RqmUFm7Qc130_assertion description "[The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2802.RA_WPCnhSfzZ-cJpL22SLysu9uKxgMcyRDh6RqmUFm7Qc130_provenance.
• NP2803.RA4E4MUPGK3ahOn1iIGvGMhQDSnDSrkKYKzdw9SGRH6GY130_assertion description "[Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2803.RA4E4MUPGK3ahOn1iIGvGMhQDSnDSrkKYKzdw9SGRH6GY130_provenance.
• NP2805.RA_px1WcVUjCzeOMhdO_W-nW7lkE7tB6T57joGXleIsmY130_assertion description "[Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2805.RA_px1WcVUjCzeOMhdO_W-nW7lkE7tB6T57joGXleIsmY130_provenance.
• NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_assertion description "[Hereditary hyperekplexia is a dominant neurological disorder associated with point mutations at the channel-forming segment M2 of the glycine receptor alpha 1 subunit.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_provenance.
• NP2811.RA0qwqCgGWDliYAM-z1vhSLGOlPLVQ18OHWbOGcxuoxAw130_assertion description "[Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2811.RA0qwqCgGWDliYAM-z1vhSLGOlPLVQ18OHWbOGcxuoxAw130_provenance.
• NP2813.RA3rVULn-mgvwgcuEsL3pMHFCL2FINNpf1-5yVQ5MmtxY130_assertion description "[Missense mutations as well as a null allele of the human glycine receptor alpha1 subunit gene GLRA1 result in the neurological disorder hyperekplexia [startle disease, stiff baby syndrome, Mendelian Inheritance in Man (MIM) #149400].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2813.RA3rVULn-mgvwgcuEsL3pMHFCL2FINNpf1-5yVQ5MmtxY130_provenance.
• NP2816.RA9gWTzcQBrdZPH2DGkk1JHIGnMcbnZbpgzsllJNc8pYw130_assertion description "[Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2816.RA9gWTzcQBrdZPH2DGkk1JHIGnMcbnZbpgzsllJNc8pYw130_provenance.
• NP2818.RAzrkKb1TPJrG-LzShP_Q1wPCY_s2O-vRRKVvPSrT5z5o130_assertion description "[Congenital glutamine deficiency with glutamine synthetase mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2818.RAzrkKb1TPJrG-LzShP_Q1wPCY_s2O-vRRKVvPSrT5z5o130_provenance.
• NP2831.RA1AAzlwBnggZDlWsK-Ub1fXRdt7doHewltCpQ_kzdC7Q130_assertion description "[Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2831.RA1AAzlwBnggZDlWsK-Ub1fXRdt7doHewltCpQ_kzdC7Q130_provenance.
• NP2833.RA6D7fqKowEz4kMfQ0ma20xg-Np1DNDi3_XmVKC-2PJ8s130_assertion description "[Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2833.RA6D7fqKowEz4kMfQ0ma20xg-Np1DNDi3_XmVKC-2PJ8s130_provenance.
• NP2836.RAx56_h07nMWd4Pr1lFeOni0plu3kjgHd0TNwbGZaMjVA130_assertion description "[A novel GNAS1 mutation, R201G, in McCune-albright syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2836.RAx56_h07nMWd4Pr1lFeOni0plu3kjgHd0TNwbGZaMjVA130_provenance.
• NP2837.RA92JjpJOgZpLWuKrjbmYti1ZEXnybuXFR2lhGVwboLSA130_assertion description "[Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2837.RA92JjpJOgZpLWuKrjbmYti1ZEXnybuXFR2lhGVwboLSA130_provenance.
• NP2840.RA2VhnFE4awLGWUgvZKWjuoUjBmcKqzcYHr0yQBfArv70130_assertion description "[Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2840.RA2VhnFE4awLGWUgvZKWjuoUjBmcKqzcYHr0yQBfArv70130_provenance.
• NP2843.RA866w_fy57LIgUrY3UjeLhmKYiblJnXYDglatUKwW7y8130_assertion description "[Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2843.RA866w_fy57LIgUrY3UjeLhmKYiblJnXYDglatUKwW7y8130_provenance.
• NP2846.RA2DmfDgPkvr1N2S-5nDhBbGb6tME5go93C4kzJkaDoMc130_assertion description "[An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2846.RA2DmfDgPkvr1N2S-5nDhBbGb6tME5go93C4kzJkaDoMc130_provenance.

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