| Title: | Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F |
| Journal : | PLoS ONE, 8, 5, e63536 |
| Authors: | Torella A ; Fanin M ; Mutarelli M ; Peterle E ; Del Vecchio Blanco F ; Rispoli R ; Savarese M ; Garofalo A ; Piluso G ; Morandi L ; Ricci G ; Siciliano G ; Angelini C ; Nigro V |
| Material Type: | Article |
| Publication Date: | 05/2013 |
| Size: | 7 p. |
| Languages: | English |
| Keywords : | exon ; family ; gene TNPO3 ; genetic mutations ; sequencing ; skeletal muscle ; TNP03-related limb-girdle muscular dystrophy D2 ; transportine 3 |
| Abstract: |
Accès au résumé Pubmed/to pubmed abstract |
| Pubmed / DOI : |
DOI : 10.1371/journal.pone.0063536  / Pubmed : 23667635
|
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Bibliographic database on neuromuscular diseases
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