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RNase MRP RNA and human genetic diseases 被引量:2

RNase MRP RNA and human genetic diseases
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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.
出处 《Cell Research》 SCIE CAS CSCD 2007年第3期219-226,共8页 细胞研究(英文版)
关键词 RNase MRP RNA cartilage-hair hypoplasia 核糖核酸酶线粒体加工 RNase MRP RNA 遗传病 软骨-毛发发育不全
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