Title: | Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2. |
Journal : | European journal of human genetics : EJHG, 26, 1 |
Authors: | Lemmers RJLF, Author ; van der Vliet PJ ; Balog J ; Goeman JJ ; Arindrarto W ; Krom YD ; Straasheijm KR ; Debipersad RD ; Özel G ; Sowden J ; Snider L ; Mul K ; Sacconi S ; van Engelen B ; Tapscott SJ ; Tawil R ; van der Maarel SM |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 94 |
Languages: | English |
Keywords : | D4Z4 locus ; DUX4 gene ; DUX4 protein ; dystrophie musculaire facio-scapulo-humérale de type 2 ; facioscapulohumeral muscular dystrophy ; gene expression ; skeletal muscle |
Pubmed / DOI : | DOI : 10.1038/s41431-017-0015-0 / Pubmed : 29162933 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29162933 |