Pathology:
CIRH1A germline mutation in the north amerindian childhood cirrhosis (NAIC) (MIM.604901) (12417987)
References
Yu B, Mitchell GA, Richter A. Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. Exp Cell Res. 2005 Dec 10;311(2):218-28. PMID: 16225863
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
Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA. Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. Am J Hum Genet. 2000 Jul;67(1):222-8. PMID: 10820129