Mutations of ATP7B gene in Wilson disease in Japan

Identification of nine mutations and lack of clear founder effect in a Japanese population

Akihiro Yamaguchi, Akihiro Matsuura, Shinichiro Arashima, Yuko Kikuchi, Kokichi Kikuchi

Research output: Contribution to journal › Article

31 Citations (Scopus)
Original languageEnglish
JournalHuman Mutation
Volume11
Issue numberSUPPL 1
DOIs
Publication statusPublished - 01-12-1998

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DNA Mutational Analysis
Cation Transport Proteins
Founder Effect
Frameshift Mutation
Hepatolenticular Degeneration
Family Health
Sequence Deletion
Missense Mutation
Amino Acid Substitution
Pedigree
Haplotypes
Adenosine Triphosphatases
Carrier Proteins
Japan
Mutation
DNA
Population
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Yamaguchi, Akihiro ; Matsuura, Akihiro ; Arashima, Shinichiro ; Kikuchi, Yuko ; Kikuchi, Kokichi. / Mutations of ATP7B gene in Wilson disease in Japan : Identification of nine mutations and lack of clear founder effect in a Japanese population. In: Human Mutation. 1998 ; Vol. 11, No. SUPPL 1.
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Yamaguchi, A, Matsuura, A, Arashima, S, Kikuchi, Y & Kikuchi, K 1998, 'Mutations of ATP7B gene in Wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population', Human Mutation, vol. 11, no. SUPPL 1. https://doi.org/10.1002/humu.1380111100

Mutations of ATP7B gene in Wilson disease in Japan : Identification of nine mutations and lack of clear founder effect in a Japanese population. / Yamaguchi, Akihiro; Matsuura, Akihiro; Arashima, Shinichiro; Kikuchi, Yuko; Kikuchi, Kokichi.

In: Human Mutation, Vol. 11, No. SUPPL 1, 01.12.1998.

Research output: Contribution to journal › Article

TY - JOUR

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AU - Arashima, Shinichiro

AU - Kikuchi, Yuko

AU - Kikuchi, Kokichi

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Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K. Mutations of ATP7B gene in Wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population. Human Mutation. 1998 Dec 1;11(SUPPL 1). https://doi.org/10.1002/humu.1380111100

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