RNase MRP RNA and human genetic diseases.
Publication
, Journal Article
Martin, AN; Li, Y
Published in: Cell Res
March 2007
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.
Duke Scholars
Published In
Cell Res
DOI
EISSN
1748-7838
Publication Date
March 2007
Volume
17
Issue
3
Start / End Page
219 / 226
Location
England
Related Subject Headings
- Ribonuclease P
- RNA, Mitochondrial
- RNA, Catalytic
- RNA
- Nucleic Acid Conformation
- Molecular Sequence Data
- Models, Genetic
- Humans
- Hair Diseases
- Genetic Diseases, Inborn
Citation
APA
Chicago
ICMJE
MLA
NLM
Martin, A. N., & Li, Y. (2007). RNase MRP RNA and human genetic diseases. Cell Res, 17(3), 219–226. https://doi.org/10.1038/sj.cr.7310120
Martin, Allison N., and Yong Li. “RNase MRP RNA and human genetic diseases.” Cell Res 17, no. 3 (March 2007): 219–26. https://doi.org/10.1038/sj.cr.7310120.
Martin AN, Li Y. RNase MRP RNA and human genetic diseases. Cell Res. 2007 Mar;17(3):219–26.
Martin, Allison N., and Yong Li. “RNase MRP RNA and human genetic diseases.” Cell Res, vol. 17, no. 3, Mar. 2007, pp. 219–26. Pubmed, doi:10.1038/sj.cr.7310120.
Martin AN, Li Y. RNase MRP RNA and human genetic diseases. Cell Res. 2007 Mar;17(3):219–226.
Published In
Cell Res
DOI
EISSN
1748-7838
Publication Date
March 2007
Volume
17
Issue
3
Start / End Page
219 / 226
Location
England
Related Subject Headings
- Ribonuclease P
- RNA, Mitochondrial
- RNA, Catalytic
- RNA
- Nucleic Acid Conformation
- Molecular Sequence Data
- Models, Genetic
- Humans
- Hair Diseases
- Genetic Diseases, Inborn