Title: | Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing. |
Journal : | European journal of human genetics : EJHG, Epub |
Authors: | Nectoux J ; de Cid R ; Baulande S ; Leturcq F ; Urtizberea JA ; Pénisson-Besnier I ; Nadaj-Pakleza A ; Roudaut C ; Criqui A ; Orhant L ; Peyroulan D ; Ben Yaou R ; Nelson I ; Cobo AM ; Arne-Bes MC ; Uro-Coste E ; Nitschke P ; Claustres M ; Bonne G ; Levy N ; Chelly J ; Richard I ; Cossee M |
Material Type: | Article |
Publication Date: | 29/10/2014 |
Languages: | English |
Keywords : | case studies ; clinical presentation ; cognitive disorders ; genetic deletions ; limb girdle muscular dystrophy ; PCR ; phenotypes ; TRIM32 gene |
Pubmed / DOI : | DOI : 10.1038/ejhg.2014.223 / Pubmed : 25351777 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25351777 |