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

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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Hlavní autoři: Annalaura Torella, Francesco Mari, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, C. Angelini, Vincenzo Nigro
Médium: Artigo
Jazyk:angličtina
Vydáno: 2013
On-line přístup:https://doi.org/10.1371/journal.pone.0063536
https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0063536&type=printable
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https://doi.org/10.1371/journal.pone.0063536
https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0063536&type=printable

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