Simon, Delphine

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