Genetic basis of progressive familial intrahepatic cholestasis

被引：56

作者：

Jacquemin, E

Hadchouel, M

机构：

[1] Bicetre Hosp, Dept Pediat, Hepatol Unit, Le Kremlin Bicetre, France

[2] Bicetre Hosp, INSERM, U347, Le Kremlin Bicetre, France

来源：

JOURNAL OF HEPATOLOGY | 1999年 / 31卷 / 02期

关键词：

D O I：

10.1016/S0168-8278(99)80240-2

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

[No abstract available]

引用

页码：377 / 381

页数：5

共 42 条

[1] HISTOLOGIC PATHOLOGY OF THE LIVER IN PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS [J].

ALONSO, EM ;

SNOVER, DC ;

MONTAG, A ;

FREESE, DK ;

WHITINGTON, PF .

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1994, 18 (02) :128-133

[2] Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22 [J].

Arnell, H ;

Nemeth, A ;

Anneren, G ;

Dahl, N .

HUMAN GENETICS, 1997, 100 (3-4) :378-381

[3] Byler-like familial cholestasis in an extended kindred [J].

Bourke, B ;

Goggin, N ;

Walsh, D ;

Kennedy, S ;

Setchell, KDR ;

Drumm, B .

ARCHIVES OF DISEASE IN CHILDHOOD, 1996, 75 (03) :223-227

[4]

Bull LN, 1997, HEPATOLOGY, V26, P155

[5] A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis [J].

Bull, LN ;

van Eijk, MJT ;

Pawlikowska, L ;

DeYoung, JA ;

Juijn, JA ;

Liao, M ;

Klomp, LWJ ;

Lomri, N ;

Berger, R ;

Scharschmidt, BF ;

Knisely, AS ;

Houwen, RHJ ;

Freimer, NB .

NATURE GENETICS, 1998, 18 (03) :219-224

[6] MAPPING OF A LOCUS FOR PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (BYLER DISEASE) TO 18Q21-Q22, THE BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS REGION [J].

CARLTON, VEH ;

KNISELY, AS ;

FREIMER, NB .

HUMAN MOLECULAR GENETICS, 1995, 4 (06) :1049-1053

[7] BYLER DISEASE - FATAL FAMILIAL INTRAHEPATIC CHOLESTASIS IN AN AMISH KINDRED [J].

CLAYTON, RJ ;

IBER, FL ;

RUEBNER, BH ;

MCKUSICK, VA .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1969, 117 (01) :112-&

[8] BYLERS DISEASE - FATAL FAMILIAL INTRAHEPATIC CHOLESTASIS IN AN AMISH KINDRED [J].

CLAYTON, RJ ;

IBER, FL ;

RUEBNER, BH ;

MCKUSICK, VA .

JOURNAL OF PEDIATRICS, 1965, 67 (5P2) :1025-+

[9]

de Vree JML, 1998, HEPATOLOGY, V28, p387A

[10] Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis [J].

De Vree, JML ;

Jacquemin, E ;

Sturm, E ;

Cresteil, D ;

Bosma, PJ ;

Aten, J ;

Deleuze, JF ;

Desrochers, M ;

Burdelski, M ;

Bernard, O ;

Elferink, RPJO ;

Hadchouel, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (01) :282-287

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