title: Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
abstract: In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2008-2013delTATATG, Cys985Thr, and Ile1148Thr have not yet been reported. One patient had a homozygous mutation whereas the remaining four subjects were compound heterozygous. Therefore these data confirm, that mutations causing Wilson disease are frequently found in affected subjects and they are very heterogenous.
authors.affiliation: Abteilung Gastroenterologie und Hepatologie, Medizinische Hochschule Hannover, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Haas
authors.forename: B
authors.initials: B
authors.lastname: Gutierrez-Rivero
authors.forename: J
authors.initials: J
authors.lastname: Knoche
authors.forename: K
authors.initials: K
authors.lastname: Böker
authors.forename: M P
authors.initials: MP
authors.lastname: Manns
authors.forename: H H
authors.initials: HH
authors.lastname: Schmidt
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases