메뉴 건너뛰기




Volumn 35, Issue 5, 2001, Pages 575-581

High prevalence of the h1069q mutation in east german patients with wilson disease: Rapid detection of mutations by limited sequencing and phenotype-genotype analysis

Author keywords

ATP7B; East German population; Mutation screening; Wilson disease

Indexed keywords

CERULOPLASMIN; GENE PRODUCT; UNCLASSIFIED DRUG; WILSON DISEASE PROTEIN;

EID: 0035171548     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(01)00219-7     Document Type: Article
Times cited : (147)

References (35)
  • 30
    • 0028816888 scopus 로고
    • Structure-function relationships of cation translocation by Ca(2+)- and Na+, K(+)-ATPases studied by site-directed mutagenesis
    • (1995) FEBS Lett , vol.359 , pp. 101-106
    • Andersen, J.P.1    Vilsen, B.2
  • 34
    • 0032471911 scopus 로고    scopus 로고
    • Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    • (1998) Am J Hum Genet , vol.63 , pp. 1663-1674
    • Forbes, J.R.1    Cox, D.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.