title: Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
abstract: Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease. Arg778Leu, the most frequently reported mutation of this enzyme, was found in six of eight unrelated patients studied, an allele frequency of 37.5%, which is considerably higher than those in other Asian populations. The novel single nucleotide deletion, 2304delC, was found in one patient. Since a mutation at cDNA nucleotide 2302 (2302insC) had been previously described, this region of the ATP7B gene may be susceptible to gene rearrangements causing Wilson disease.
authors.affiliation: Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Taejon.
authors.forename: E K
authors.initials: EK
authors.lastname: Kim
authors.forename: O J
authors.initials: OJ
authors.lastname: Yoo
authors.forename: K Y
authors.initials: KY
authors.lastname: Song
authors.forename: H W
authors.initials: HW
authors.lastname: Yoo
authors.forename: S Y
authors.initials: SY
authors.lastname: Choi
authors.forename: S W
authors.initials: SW
authors.lastname: Cho
authors.forename: S H
authors.initials: SH
authors.lastname: Hahn
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics; D016022:Case-Control Studies; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D017931:DNA Primers / Q000235:genetics; D005787:Gene Frequency; D006527:Hepatolenticular Degeneration / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007723:Korea; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D017931:DNA Primers; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases