RNase MRP RNA and human genetic diseases

被引：58
作者：
Martin, Allison N.
Li, Yong
机构：
[1] Univ Louisville, Dept Biochem & Mol Biol, Louisville, KY 40202 USA
[2] Univ Louisville, Sch Med, Ctr Genet & Mol Med, Louisville, KY 40202 USA
来源：
CELL RESEARCH | 2007年 / 17卷 / 03期
关键词：
RNase MRP RNA; cartilage-hair hypoplasia;
D O I：
10.1038/sj.cr.7310120
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
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.
引用
收藏
页码：219 / 226
页数：8
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