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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173666/
https://www.ncbi.nlm.nih.gov/pubmed/25352746

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