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Volumn 30, Issue 1, 2004, Pages 1-3

Indel in the FIC1/ATP8B1 gene - A novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

Author keywords

Benign recurrent intrahepatic cholestasis; FIC1 ATP8B1gene; Indel

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CHOLESTEROL; GAMMA GLUTAMYLTRANSFERASE;

EID: 4344681945     PISSN: 13866346     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hepres.2004.05.001     Document Type: Article
Times cited : (2)

References (4)
  • 1
    • 0031907132 scopus 로고    scopus 로고
    • A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
    • Bull L.N. van Eijk M.J. Pawlikowska L. et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis Nat. Genet. 18 1998 219-224
    • (1998) Nat. Genet. , vol.18 , pp. 219-224
    • Bull, L.N.1    van Eijk, M.J.2    Pawlikowska, L.3
  • 2
    • 0036186424 scopus 로고    scopus 로고
    • Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: Low GGT cholestasis is a clinical continuum
    • van Ooteghem N.A. Klomp L.W. van Berge-Henegouwen G.P. Houwen R.H. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum J. Hepatol. 36 2002 439-443
    • (2002) J. Hepatol. , vol.36 , pp. 439-443
    • van Ooteghem, N.A.1    Klomp, L.W.2    van Berge-Henegouwen, G.P.3    Houwen, R.H.4
  • 4
    • 0037228574 scopus 로고    scopus 로고
    • Meta-analysis of indels causing human genetic disease: Mechanisms of mutagenesis and the role of local DNA sequence complexity
    • Chuzhanova N.A. Anassis E.J. Ball E.V. Krawczak M. Cooper D.N. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity Hum. Mutat. 21 2003 28-44
    • (2003) Hum. Mutat. , vol.21 , pp. 28-44
    • Chuzhanova, N.A.1    Anassis, E.J.2    Ball, E.V.3    Krawczak, M.4    Cooper, D.N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.