Title: | Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene |
Journal : | Human mutation, 35, 12 |
Authors: | Kergourlay V ; Raï G ; Blandin G ; Salgado D ; Beroud C ; Levy N ; Krahn M ; Bartoli M |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 1532 |
Languages: | English |
Keywords : | diagnosis ; DYSF gene ; dysferlinopathy ; genetic mutations ; in vitro ; splicing factors |
Keywords: | DYSF;diagnostics tests;dysferlin;neuromuscular disease;splicing; |
Pubmed / DOI : | DOI : 10.1002/humu.22710 / Pubmed : 25312915 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25312915 |