Volume 17, No 3, Mar 2007

ISSN: 1001-0602 
EISSN: 1748-7838 2018 
impact factor 17.848* 
(Clarivate Analytics, 2019)

Volume 17 Issue 3, March 2007: 219-226

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RNase MRP RNA and human genetic diseases

Allison N Martin, Yong Li

¹Department of Biochemistry and Molecular Biology, and Center for Genetics and Molecular Medicine, School of Medicine, University of Louisville, 319 Abraham Flexner Way, Louisville, KY 40202, USA Correspondence: Yong Li(yong.li@louisville.edu)

RNase MRP RNA is the RNA subunit of the RNase mitochondrial RNA processing (MRP) enzyme complex that is involved in multiple cellular RNA processing events. Mutations on RNase MRP RNA gene (RMRP) cause a recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH). The relationship of the genotype (RMRP mutation), RNA processing deficiency of the RNase MRP complex, and the phenotype of CHH and other skeletal dysplasias is yet to be explored.

Cell Research (2007) 17: 219-226. doi: 10.1038/sj.cr.7310120; published online 26 December 2006

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