[Familial intrahepatic cholestasis. Novel advances].
In the last years hepatology has known remarkable improvement to understanding the mechanisms involved in familial intrahepatic cholestasis. The role of genetic anomalies is very important. Identification of genes involved in familial intrahepatic cholestasis has proven to be an important strategy to unravel the processes of bile acid synthesis and bile salt transport. The complexity of the mechanisms of bile flow clearly suggests that many more genetic abnormalities have yet to be identified.
Abenavoli
Ludovico
L
De Maria
Vincenzo
V
DeSiena
Massimo
M
DiSalvo
Sebastiano
S
Giancotti
Francesca
F
Gravina
Tiziana
T
Abenavoli
Saverio M
SM
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics; D001647:Bile Acids and Salts / Q000378:metabolism; D002780:Cholestasis, Intrahepatic / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006801:Humans; D008099:Liver / Q000378:metabolism; D009154:Mutation
D018528:ATP-Binding Cassette Transporters; D001647:Bile Acids and Salts; D000251:Adenosine Triphosphatases