Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous conditions. We investigated a large family with autosomal dominant transmission pattern, previously classified as LGMD1F and mapped to chromosome 7q32. Affected members are characterized by muscle weakness affecting...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Torella, Annalaura, Fanin, Marina, Mutarelli, Margherita, Peterle, Enrico, Del Vecchio Blanco, Francesca, Rispoli, Rossella, Savarese, Marco, Garofalo, Arcomaria, Piluso, Giulio, Morandi, Lucia, Ricci, Giulia, Siciliano, Gabriele, Angelini, Corrado, Nigro, Vincenzo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2013
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3646821/
https://ncbi.nlm.nih.gov/pubmed/23667635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0063536
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