CIRH1A
MIM.607456 16q22
cirhin
Pathology:
mutation in the north american indian childhood cirrhosis (NAIC) (MIM.604901) (12417987)
References
Chagnon, P.; Michaud, J.; Mitchell, G.; Mercier, J.; Marion, J.-F.; Drouin, E.; Rasquin-Weber, A.; Hudson, T. J.; Richter, A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am. J. Hum. Genet. 71: 1443-1449, 2002. PubMed ID : 12417987