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Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

PURPOSE: The aim of the present work was to identify and characterize large rearrangements involving the USH2A gene in patients with Usher syndrome and nonsyndromic retinitis pigmentosa. METHODS: The multiplex ligation-dependent probe amplification (MLPA) technique combined with a customized array-b...

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Detalles Bibliográficos
Autores principales:	García-García, Gema, Aller, Elena, Jaijo, Teresa, Aparisi, Maria J., Larrieu, Lise, Faugère, Valérie, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Francoise, Millán, José M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173666/ https://www.ncbi.nlm.nih.gov/pubmed/25352746

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