A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis
Articles » Scholarly, peer reviewed
Author/Creator
Pierre Chagnon
Jacques Michaud
Grant Mitchell
Jocelyne Mercier
Marion Jean-Francois
et al.
American Journal of Human Genetics, vol. 71, no. 6, December 2002, pp. 1443-1449
Description
Study concludes that a single gene mutation causes North American Indian Childhood Cirrhosis, a distinct and severe form of familial cholestasis, which occurs in aboriginal children in the Abitibi region of northwestern Quebec.