Title: | Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype |
Journal : | Human mutation, 36, 4 |
Authors: | Puppo F ; Dionnet E ; Gaillard MC ; Gaildrat P ; Castro C ; Vovan C ; Karine B ; Bernard R ; Attarian S ; Goto K ; Nishino I ; Hayashi Y ; Magdinier F ; Krahn M ; Helmbacher F ; Bartoli M ; Levy N |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 443 |
Languages: | English |
Keywords : | antisense oligonucleotides ; facioscapulohumeral muscular dystrophy ; FAT1 gene ; splicing |
Keywords: | FAT1-protocadherin;facioscapulohumeral dystrophy;neuromuscular pathology; |
Pubmed / DOI : | DOI : 10.1002/humu.22760 / Pubmed : 25615407 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25615407 |
See also : |