Matches in Nanopublications for { ?s ?p "[A single mutation (C73R) in the enzyme uroporphyrinogen III synthase (UROIIIS) is responsible for more than one-third of all of the reported cases of the rare autosomal disease congenital erythropoietic porphyria (CEP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_assertion description "[A single mutation (C73R) in the enzyme uroporphyrinogen III synthase (UROIIIS) is responsible for more than one-third of all of the reported cases of the rare autosomal disease congenital erythropoietic porphyria (CEP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.
- NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_assertion description "[A single mutation (C73R) in the enzyme uroporphyrinogen III synthase (UROIIIS) is responsible for more than one-third of all of the reported cases of the rare autosomal disease congenital erythropoietic porphyria (CEP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_provenance.
- NP767338.RA8z3ALOQBYmpMp3SHcbkf0tUJB9SuDkZ1OHugxe5OTjw130_assertion description "[A single mutation (C73R) in the enzyme uroporphyrinogen III synthase (UROIIIS) is responsible for more than one-third of all of the reported cases of the rare autosomal disease congenital erythropoietic porphyria (CEP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP767338.RA8z3ALOQBYmpMp3SHcbkf0tUJB9SuDkZ1OHugxe5OTjw130_provenance.