A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. [electronic resource]
- Human molecular genetics May 2010
- 2015-27 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddq083 doi
3' Untranslated Regions--genetics Acetylation Base Sequence Cell Line Female Fetus--enzymology Fibroblasts--enzymology Gene Dosage--genetics Gene Expression Regulation Genes, Dominant--genetics Genetic Diseases, X-Linked--enzymology Histone Deacetylase 6 Histone Deacetylases--genetics Humans Male MicroRNAs--metabolism Molecular Sequence Data Mutation--genetics Osteochondrodysplasias--enzymology Pedigree RNA Processing, Post-Transcriptional RNA Stability Sequence Analysis, DNA Skin--pathology Thymus Gland--enzymology