Martin AN and Li Y (2007) RNase MRP RNA and human genetic diseases. Cell Res 17(3):219-26
Abstract: 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 advance online publication 26 December 2006; doi: 10.1038/sj.cr.7310120.
|Status: Published||Type: Journal Article||PubMed ID: 17189938|
Topics addressed in this paper
- To go to the Locus page for a gene, click on the gene name.
|Disease Gene Related|
|Non-Fungal Related Genes/Proteins|