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Volumn 37, Issue 3, 1996, Pages 303-309

Efficient detection of mutations in Wilson disease by manifold sequencing

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; PRIMER DNA;

EID: 0030298046     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0564     Document Type: Article
Times cited : (100)

References (12)
  • 1
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull, P. C., Thomas, G. R., Rommens, J. M., Forbes, J. R., and Cox, D. W. (1993). The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet. 5: 327-337.
    • (1993) Nature Genet. , vol.5 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3    Forbes, J.R.4    Cox, D.W.5
  • 3
    • 0018764261 scopus 로고
    • Oral zinc sulphate as long term treatment in Wilson's disease
    • Hoogenraad, T. A., Koevot, R., and de Ruyter Korver, E. G. W. M. (1979). Oral zinc sulphate as long term treatment in Wilson's disease. Eur. Neurol. 18: 205-211.
    • (1979) Eur. Neurol. , vol.18 , pp. 205-211
    • Hoogenraad, T.A.1    Koevot, R.2    De Ruyter Korver, E.G.W.M.3
  • 4
    • 0029068234 scopus 로고
    • H714Q mutation in Wilson disease is associated with late, neurological presentation
    • Houwen, R. H., Juyn, J., Hoogenraad, T. U., Ploos van Amstel, J. K., and Berger, R. (1995). H714Q mutation in Wilson disease is associated with late, neurological presentation. J. Med. Genet. 32: 480-482.
    • (1995) J. Med. Genet. , vol.32 , pp. 480-482
    • Houwen, R.H.1    Juyn, J.2    Hoogenraad, T.U.3    Ploos Van Amstel, J.K.4    Berger, R.5
  • 6
    • 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, B. M., Kaplan, J. H., and Gilliam, T. C. (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. 3: 1647-1656.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1647-1656
    • Petrukhin, K.1    Lutsenko, S.2    Chernov, I.3    Ross, B.M.4    Kaplan, J.H.5    Gilliam, T.C.6
  • 8
    • 0028869945 scopus 로고
    • The Wilson disease gene: Spectrum of mutations and their consequences
    • Thomas, G. R., Forbes, J. R., Roberts, E. A., Walshe, J. M., and Cox, D. W. (1995a). The Wilson disease gene: Spectrum of mutations and their consequences. Nature Genet. 9: 210-217.
    • (1995) Nature Genet. , vol.9 , pp. 210-217
    • Thomas, G.R.1    Forbes, J.R.2    Roberts, E.A.3    Walshe, J.M.4    Cox, D.W.5
  • 10
    • 77049283245 scopus 로고
    • A new oral therapy for Wilson's disease
    • Walshe, J. M. (1956). A new oral therapy for Wilson's disease. Am. J. Med. 21: 487-495.
    • (1956) Am. J. Med. , vol.21 , pp. 487-495
    • Walshe, J.M.1
  • 11
    • 0014693218 scopus 로고
    • Management of penicillamine nephropathy in Wilson's disease: A new chelating agent
    • Walshe, J. M. (1969). Management of penicillamine nephropathy in Wilson's disease: A new chelating agent. Lancet 1: 1401-1402.
    • (1969) Lancet , vol.1 , pp. 1401-1402
    • Walshe, J.M.1
  • 12
    • 0027431996 scopus 로고
    • Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
    • Yamaguchi, Y., Heiny, M. E., and Gitlin, J. D. (1993). Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem. Biophys. Res. Commun. 197: 271-277.
    • (1993) Biochem. Biophys. Res. Commun. , vol.197 , pp. 271-277
    • Yamaguchi, Y.1    Heiny, M.E.2    Gitlin, J.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.