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Volumn 10, Issue 3, 2011, Pages 281-286

Molecular analysis in the exon 2 of atp7b gene in cubans patients with Wilson disease;Análisis molecular del exón 2 del gen atp7b en pacientes cubanos con la enfermedad de Wilson

Author keywords

Atp7b gene; Mutation N41S; SSCP; Wilson disease

Indexed keywords


EID: 85025079235     PISSN: None     EISSN: 1729519X     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (12)
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    • Sequence variation database for the Wilson disease copper transporter, ATP7B
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    • (2007) Human Mutation , vol.28 , Issue.12 , pp. 1171-1177
    • Kenney, S.M.1    Cox, D.W.2
  • 2
    • 0034641603 scopus 로고    scopus 로고
    • Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
    • Forbes JR and Cox DW. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Molec Genet 2000;9:1927-1935.
    • (2000) Hum Molec Genet , vol.9 , pp. 1927-1935
    • Forbes, J.R.1    Cox, D.W.2
  • 4
    • 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 KE, Lutsenko S, Chernov I. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994;3:1647-1656.
    • (1994) Hum Mol Genet , vol.3 , pp. 1647-1656
    • Petrukhin, K.E.1    Lutsenko, S.2    Chernov, I.3
  • 5
    • 20944443019 scopus 로고    scopus 로고
    • Mutation analysis of Wilson disease in the Spanish population identification of a prevalent substitution and eight novel mutations in the ATP7B gene
    • Margarit E, Bach V, Gómez D, Bruguera M, Jara P, Queralt R, Ballesta, F. Mutation analysis of Wilson disease in the Spanish population identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet 2005;68:6168.
    • (2005) Clin Genet , vol.68 , pp. 6168
    • Margarit, E.1    Bach, V.2    Gómez, D.3    Bruguera, M.4    Jara, P.5    Queralt, R.6    Ballesta, F.7
  • 6
    • 41449091131 scopus 로고    scopus 로고
    • New mutations in the Wilson disease gene, ATP7B: Implications for molecular testing
    • Prat L, Macintyre G and Cox D. New Mutations in the Wilson Disease Gene, ATP7B: Implications for Molecular Testing. Genetic Testing 2008;12(1):139-146.
    • (2008) Genetic Testing , vol.12 , Issue.1 , pp. 139-146
    • Prat, L.1    Macintyre, G.2    Cox, D.3
  • 7
    • 37049036616 scopus 로고    scopus 로고
    • Sequence variation database for the Wilson disease copper transporter, ATP7B
    • Kenney SM, Cox DW. Sequence variation database for the Wilson disease copper transporter, ATP7B. Hum Mutat. 2007;28(12):1171-7.
    • (2007) Hum Mutat , vol.28 , Issue.12 , pp. 1171-1177
    • Kenney, S.M.1    Cox, D.W.2
  • 9
    • 28644438204 scopus 로고    scopus 로고
    • A Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
    • Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B et al. A Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Clin Genet 2005;68:52432.
    • (2005) Clin Genet , vol.68 , pp. 52432
    • Gromadzka, G.1    Schmidt, H.H.2    Genschel, J.3    Bochow, B.4    Rodo, M.5    Tarnacka, B.6
  • 10
    • 80053916114 scopus 로고    scopus 로고
    • Spectrum of ATP7B gene mutations in Pakistani Wilson disease patients: A novel mutation is associated with severe hepatic and neurological complication
    • Khaliq A, Majeed A and Asifa S. Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication. International Journal of Biology 2010, 2(1):117-122.
    • (2010) International Journal of Biology , vol.2 , Issue.1 , pp. 117-122
    • Khaliq, A.1    Majeed, A.2    Asifa, S.3
  • 12
    • 0024284028 scopus 로고
    • Salting out procedure for extracting
    • Miller SA. Salting out procedure for extracting. DNA nucleic acids reserch 1988;16(3):1215.
    • (1988) DNA Nucleic Acids Reserch , vol.16 , Issue.3 , pp. 1215
    • Miller, S.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.