title: Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.
authors.affiliation: Campus Charité Mitte, Med. Klinik m.S. Gastroenterologie, Hepatologie und Endokrinologie, Berlin, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Genschel
authors.forename: A
authors.initials: A
authors.lastname: Czlonkowska
authors.forename: G
authors.initials: G
authors.lastname: Sommer
authors.forename: C
authors.initials: C
authors.lastname: Buettner
authors.forename: B
authors.initials: B
authors.lastname: Bochow
authors.forename: H
authors.initials: H
authors.lastname: Lochs
authors.forename: H
authors.initials: H
authors.lastname: Schmidt
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D018389:Codon, Nonsense; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D018389:Codon, Nonsense; D004247:DNA; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases