Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia

Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone metaphysis anomalies with manifestations that include short stature, defective cellular immunity, and predisposition to several cancers. It is caused by mutations in RMRP, which is transcribed as an RNA...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Syndromol
Päätekijät: Cherkaoui Jaouad, Imane, Laarabi, Fatima Z., Chafai Elalaoui, Siham, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Sefiani, Abdelaziz
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: S. Karger AG 2015
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521058/
https://ncbi.nlm.nih.gov/pubmed/26279652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000430970
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