期刊
CELL RESEARCH
卷 17, 期 3, 页码 219-226出版社
INST BIOCHEMISTRY & CELL BIOLOGY
DOI: 10.1038/sj.cr.7310120
关键词
RNase MRP RNA; cartilage-hair hypoplasia
类别
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.
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