An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps.
| Autor: | Fanin M, Benedicenti F, Fritegotto C, Nascimbeni AC, Peterle E, Stanzial F, Cristofoletti A, Castellan C, Angelini C |
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| Jazyk: | angličtina |
| Zdroj: | Clinical genetics [Clin Genet] 2012 Dec; Vol. 82 (6), pp. 601-2. Date of Electronic Publication: 2012 Apr 09. |
| DOI: | 10.1111/j.1399-0004.2012.01873.x |
| Databáze: | MEDLINE |
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