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

研究成果: Article

31 引用 (Scopus)
元の言語English
ページ（範囲）S320-S322
ジャーナルHuman Mutation
巻11
発行部数SUPPL 1
DOI
出版物ステータスPublished - 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)

これを引用

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. ：: Human Mutation. 1998 ; 巻 11, 番号 SUPPL 1. pp. S320-S322.
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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, 巻. 11, 番号 SUPPL 1, pp. S320-S322. 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.

：: Human Mutation, 巻 11, 番号 SUPPL 1, 01.12.1998, p. S320-S322.

研究成果: Article

TY - JOUR

T1 - Mutations of ATP7B gene in Wilson disease in Japan

T2 - Identification of nine mutations and lack of clear founder effect in a Japanese population

AU - Yamaguchi, Akihiro

AU - Matsuura, Akihiro

AU - Arashima, Shinichiro

AU - Kikuchi, Yuko

AU - Kikuchi, Kokichi

PY - 1998/12/1

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JO - Human Mutation

JF - Human Mutation

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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 12 1;11(SUPPL 1):S320-S322. https://doi.org/10.1002/humu.1380111100

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