Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.
Jacquemin
Emmanuel
E
Pediatric Hepatology, National Reference Centre for Biliary Atresia, INSERM 757, France. emmanuel.jacquemin@bct.aphp.fr
Malan
Valérie
V
Rio
Marlène
M
Davit-Spraul
Anne
A
Cohen
Joseph
J
Landrieu
Pierre
P
Bernard
Olivier
O
D000251:Adenosine Triphosphatases / Q000235:genetics*; D002779:Cholestasis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017384:Sequence Deletion
D000251:Adenosine Triphosphatases; C111067:ATP8B1 protein, human