000 02208 a2200649 4500
005 20250515210530.0
264 0 _c20100721
008 201007s 0 0 eng d
022 _a1460-2083
024 7 _a10.1093/hmg/ddq083
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSimon, Delphine
245 0 0 _aA 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.
_h[electronic resource]
260 _bHuman molecular genetics
_cMay 2010
300 _a2015-27 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _a3' Untranslated Regions
_xgenetics
650 0 4 _aAcetylation
650 0 4 _aBase Sequence
650 0 4 _aCell Line
650 0 4 _aFemale
650 0 4 _aFetus
_xenzymology
650 0 4 _aFibroblasts
_xenzymology
650 0 4 _aGene Dosage
_xgenetics
650 0 4 _aGene Expression Regulation
650 0 4 _aGenes, Dominant
_xgenetics
650 0 4 _aGenetic Diseases, X-Linked
_xenzymology
650 0 4 _aHistone Deacetylase 6
650 0 4 _aHistone Deacetylases
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMicroRNAs
_xmetabolism
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
_xgenetics
650 0 4 _aOsteochondrodysplasias
_xenzymology
650 0 4 _aPedigree
650 0 4 _aRNA Processing, Post-Transcriptional
650 0 4 _aRNA Stability
650 0 4 _aSequence Analysis, DNA
650 0 4 _aSkin
_xpathology
650 0 4 _aThymus Gland
_xenzymology
700 1 _aLaloo, Benoit
700 1 _aBarillot, Malika
700 1 _aBarnetche, Thomas
700 1 _aBlanchard, Camille
700 1 _aRooryck, Caroline
700 1 _aMarche, Michèle
700 1 _aBurgelin, Ingrid
700 1 _aCoupry, Isabelle
700 1 _aChassaing, Nicolas
700 1 _aGilbert-Dussardier, Brigitte
700 1 _aLacombe, Didier
700 1 _aGrosset, Christophe
700 1 _aArveiler, Benoit
773 0 _tHuman molecular genetics
_gvol. 19
_gno. 10
_gp. 2015-27
856 4 0 _uhttps://doi.org/10.1093/hmg/ddq083
_zAvailable from publisher's website
999 _c19550381
_d19550381