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Volumn 102, Issue 2, 2001, Pages 146-148

Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis

Author keywords

FISH analysis; Steroid sulfatase; STS gene; X linked ichthyosis; X linked ichthyosis carriers

Indexed keywords

STERYL SULFATASE;

EID: 0035425950     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1450     Document Type: Article
Times cited : (21)

References (23)
  • 1
    • 0030753202 scopus 로고    scopus 로고
    • Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein
    • (1997) J Biol Chem , vol.272 , pp. 20756-20763
    • Alperin, E.S.1    Shapiro, L.J.2
  • 5
    • 0025368847 scopus 로고
    • Detection of carriers for X-linked ichthyosis by southern blot analysis and identification of one family with a de novo mutation
    • (1990) J Invest Dermatol , vol.95 , pp. 16-19
    • Bonifas, J.1    Epstein, E.2
  • 12
    • 0029888194 scopus 로고    scopus 로고
    • Steroid sulphatase deficiency: Identification of heterozygotes using hydrolysis of dehydroepiandrosterone sulphate by peripheral leucocytes
    • (1996) Ann Clin Biochem , vol.33 , pp. 219-226
    • Lowis, E.I.1    Oakey, R.E.2
  • 23
    • 84965266470 scopus 로고
    • Clinical features of autosomal dominant and sex-linked ichthyosis in an English population
    • (1966) Br Med J , vol.1 , pp. 947-950
    • Wells, R.S.1    Kerr, C.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.