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References

These sources were used to develop the Genetics Home Reference gene summary on the CIRH1A gene.

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. Epub 2000 May 11. PubMed citation
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet. 2002 Dec;71(6):1443-9. Epub 2002 Nov 4. PubMed citation
Entrez Gene
Freed EF, Baserga SJ. The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. Nucleic Acids Res. 2010 Aug;38(14):4798-806. doi: 10.1093/nar/gkq185. Epub 2010 Apr 12. PubMed citation
Yu B, Mitchell GA, Richter A. Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. Exp Cell Res. 2009 Nov 1;315(18):3086-98. doi: 10.1016/j.yexcr.2009.08.017. Epub 2009 Sep 2. PubMed citation
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. Epub 2005 Oct 12. PubMed citation

Reviewed: March 2011

Published: June 17, 2013