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CIRH1A

MIM.607456 16q22

Monday 9 June 2003

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

- B├ętard 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