Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

Human Mutation

Volumn 11, Issue 4, 1998, Pages 275-278

  Kim, Eun Kyung ^a   Yoo, Ook Joon ^a,b   Song, Kyu Young ^c   Yoo, Han Wook ^c   Choi, Sang Yong ^d   Cho, Sung Won ^e   Hahn, Si Houn ^e  

^a Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^b Korea Institute of Energy Research   (South Korea)

^c University of Ulsan College of Medicine   (South Korea)

^d Korea University College of Medicine   (South Korea)

^e Ajou University School of Medicine   (South Korea)

Author keywords

ATP7B gene; Mutations; Polymorphisms; Wilson disease

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ALLELES; BASE SEQUENCE; CARRIER PROTEINS; CASE-CONTROL STUDIES; CATION TRANSPORT PROTEINS; DNA PRIMERS; GENE FREQUENCY; HEPATOLENTICULAR DEGENERATION; HUMANS; KOREA; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION;

EID: 0345480774     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.0.CO;2-L     Document Type: Article

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