A missense mutation in FIC1 is associated with Greenland familial cholestasis

Hepatology

Volumn 32, Issue 6, 2000, Pages 1337-1341

  Klomp, Leo W J ^a   Bull, Laura N ^b   Knisely, Alexander S ^c   Van Der Doelen, Marjolein A M ^a   Juijn, Jenneke A ^a   Berger, Ruud ^a   Forget, Sylviane ^d   Nielsen, Inge Merete ^e   Eiberg, Hans ^f   Houwen, Roderick H J ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

^e NAESTVED HOSPITAL   (Denmark)

^f UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN FIC1; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; BILE; BLEEDING; CANADA; CHILD; CHOLESTASIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILIAL DISEASE; GREENLAND; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER BIOPSY; MISSENSE MUTATION; PRIORITY JOURNAL; PRURITUS; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STEATORRHEA; SYMPTOM;

EID: 0033652101     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1053/jhep.2000.20520     Document Type: Article

References (27)

1. Byler disease: Fatal familial intrahepatic cholestasis in an Amish kindred
2. Hepatobiliary transport: Molecular mechanisms of development and cholestasis
3. Genetic basis of progressive familial intrahepatic cholestasis
4. Progressive familial intrahepatic cholestasis: A personal perspective
5. Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis
6. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
7. Benign recurrent intrahepatic cholestasis (BRIC): Evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64
8. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
9. Fine-resolution mapping by haplotype evaluation: The examples of PFIC1 and BRIC
10. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24
11. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver
12. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
13. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
14. Fatal familial cholestatic syndrome in Greenland Eskimo children
15. Linkage of cholestasis familiaris groenlandica/ Byler-like disease to chromosome 18
16. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PF1C-1] and Byler syndrome): Evidence for heterogeneity
17. Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers
18. Paucity of interlobular bile ducts: Arteriohepatic dysplasia and nonsyndromic duct paucity
19. Serum ferritin in a Greenlandic Inuit hunter population from the Thule district
20. Byler byou
21. Fatal familial cholestatic syndrome in Greenland Eskimo children: A histomorphological analysis of 16 cases
22. The complete inventory of the yeast Saccharomyces cerevisiae P-type transport ATPases
23. Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs
24. A subfamily of P-type ATPases with aminophospholipid transporting activity
25. Loss of Drs2p does not abolish transfer of fluorescence-labeled phospholipids across the plasma membrane of Saccharomyces cerevisiae
26. Role for Drs2p, a P-type ATPase and potential aminophospholipid translocase, in yeast late Golgi function