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Volumn 12, Issue 6, 1998, Pages 370-376

Mutation analysis of Wilson disease in Taiwan and description of six new mutations

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DNA SEQUENCE; GENE MUTATION; HUMAN; PRIORITY JOURNAL; RNA TRANSCRIPTION; SINGLE STRAND CONFORMATION POLYMORPHISM; TAIWAN; WILSON DISEASE;

EID: 0031731014     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.0.CO;2-S     Document Type: Article
Times cited : (42)

References (20)
  • 2
    • 0028242939 scopus 로고
    • Wilson disease and Menkes disease: New handles on heavy-metal transport
    • Bull PC, Cox DW (1994) Wilson disease and Menkes disease: New handles on heavy-metal transport. Trends Genet 10:246-252.
    • (1994) Trends Genet , vol.10 , pp. 246-252
    • Bull, P.C.1    Cox, D.W.2
  • 3
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet 5:327-335.
    • (1993) Nature Genet , vol.5 , pp. 327-335
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3    Forbes, J.R.4    Cox, D.W.5
  • 4
    • 0027376466 scopus 로고
    • Cloning the Wilson disease gene
    • Chelly J, Monaco AP (1993) Cloning the Wilson disease gene. Nature Genet 5:317-318.
    • (1993) Nature Genet , vol.5 , pp. 317-318
    • Chelly, J.1    Monaco, A.P.2
  • 6
    • 0030012456 scopus 로고    scopus 로고
    • High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease
    • Chuang LM, Wu HP, Jang MH, Wang TR, Sue WC, Lin BJ, Cox DW, Tai TY (1996) High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet 33:521-523.
    • (1996) J Med Genet , vol.33 , pp. 521-523
    • Chuang, L.M.1    Wu, H.P.2    Jang, M.H.3    Wang, T.R.4    Sue, W.C.5    Lin, B.J.6    Cox, D.W.7    Tai, T.Y.8
  • 7
    • 0000386450 scopus 로고
    • Disorders of copper transport
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York: McGraw-Hill
    • Danks DM (1995) Disorders of copper transport. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. New York: McGraw-Hill, pp 2211-2235.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 2211-2235
    • Danks, D.M.1
  • 11
    • 0028040512 scopus 로고
    • Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
    • Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 9:1647-1656.
    • (1994) Hum Mol Genet , vol.9 , pp. 1647-1656
    • Petrukhin, K.1    Lutsenko, S.2    Chernov, I.3    Ross, B.M.4    Kaplan, J.H.5    Gilliam, T.C.6
  • 17
    • 0027446365 scopus 로고
    • Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
    • Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet 3:7-13.
    • (1993) Nature Genet , vol.3 , pp. 7-13
    • Vulpe, C.1    Levinson, B.2    Whitney, S.3    Packman, S.4    Gitschier, J.5
  • 20
    • 0028916909 scopus 로고
    • The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake
    • Yuan DS, Stearman R, Dancis A, Dunn T, Beeler T, Klausner RD (1995) The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake. Proc Natl Acad Sci USA 92:2632-2636.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 2632-2636
    • Yuan, D.S.1    Stearman, R.2    Dancis, A.3    Dunn, T.4    Beeler, T.5    Klausner, R.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.