PMC Links for OMIM (Select 610032) - PMC

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Items: 3

Select item 36468211.

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

Annalaura Torella, Marina Fanin, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, Corrado Angelini, Vincenzo Nigro

PLoS One. 2013; 8(5): e63536. Published online 2013 May 7. doi: 10.1371/journal.pone.0063536

PMCID:: PMC3646821

Abstract Article PDF–736K

Select item 36342012.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Maria J. Melià, Akatsuki Kubota, Saida Ortolano, Juan J. Vílchez, Josep Gámez, Kurenai Tanji, Eduardo Bonilla, Lluís Palenzuela, Israel Fernández-Cadenas, Anna Přistoupilová, Elena García-Arumí, Antoni L. Andreu, Carmen Navarro, Michio Hirano, Ramon Martí

Brain. 2013 May; 136(5): 1508–1517. Published online 2013 Mar 29. doi: 10.1093/brain/awt074