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Volumn 20, Issue 4, 2005, Pages 660-662

Two novel mutations (2976INSA, 4311INSA) of ATP7B in a patient with Wilson's disease coexisting with glucose-6-phosphate dehydrogenase deficiency [3]

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CIPROFLOXACIN; ETHAMBUTOL; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; PENICILLAMINE; RIFAMPICIN; STREPTOMYCIN; TUBERCULOSTATIC AGENT; WILSON DISEASE PROTEIN;

EID: 19944368754     PISSN: 08159319     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1440-1746.2005.03781.x     Document Type: Letter
Times cited : (7)

References (7)
  • 2
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    • A critical evaluation of copper metabolism in Indian Wilson's disease children with special reference to their phenotypes and relatives
    • Prasad R., Kaur G, Walia BNS. A critical evaluation of copper metabolism in Indian Wilson's disease children with special reference to their phenotypes and relatives. Biol. Trace Element Res. 1998; 65: 153-65.
    • (1998) Biol. Trace Element Res. , vol.65 , pp. 153-165
    • Prasad, R.1    Kaur, G.2    Walia, B.N.S.3
  • 3
    • 16944366995 scopus 로고    scopus 로고
    • Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analysis
    • Shah AB, Chernov I, Zhang HT et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analysis. Am. J. Hum. Genet. 1997; 61: 317-28.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 317-328
    • Shah, A.B.1    Chernov, I.2    Zhang, H.T.3
  • 4
    • 0026636441 scopus 로고
    • Free radicals, antioxidants and human disease: Where are we now?
    • Halliwell B, Gutteridge JMC, Cross E. Free radicals, antioxidants and human disease: Where are we now? J. Lab. Clin. Med. 1992; 119: 598-620.
    • (1992) J. Lab. Clin. Med. , vol.119 , pp. 598-620
    • Halliwell, B.1    Gutteridge, J.M.C.2    Cross, E.3
  • 5
    • 0024554012 scopus 로고
    • The role of glutathione in copper metabolism and toxicity
    • Freedman JH, Ciriolo MR, Peisach J. The role of glutathione in copper metabolism and toxicity. J. Boil. Chem. 1989; 254: 5598-605.
    • (1989) J. Boil. Chem. , vol.254 , pp. 5598-5605
    • Freedman, J.H.1    Ciriolo, M.R.2    Peisach, J.3
  • 6
    • 0029989488 scopus 로고    scopus 로고
    • Molecular basis of pathophysiology of Indian childhood cirrhosis. Role of nuclear copper accumulation in liver
    • Prasad R, Kaur G, Walia BNS. Molecular basis of pathophysiology of Indian childhood cirrhosis. Role of nuclear copper accumulation in liver. Mol. Cell. Biochem. 1996; 156: 25-30.
    • (1996) Mol. Cell. Biochem. , vol.156 , pp. 25-30
    • Prasad, R.1    Kaur, G.2    Walia, B.N.S.3
  • 7
    • 84895626248 scopus 로고    scopus 로고
    • Functional significance of carboxy-terminus of the Wilson disease copper transporting ATPase
    • Cox DW, His G, Cullen LM, Glerum DM. Functional significance of carboxy-terminus of the Wilson disease copper transporting ATPase. Am. J. Hum. Genet. 2003; 73: 2445.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 2445
    • Cox, D.W.1    His, G.2    Cullen, L.M.3    Glerum, D.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.