Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

PURPOSE: Protocadherin-15 (PCDH15) is one of the five genes currently identified as being mutated in Usher 1 syndrome and defines Usher syndrome type 1F (USH1F). When PCDH15 was systematically analyzed for mutations in a cohort of USH1 patients, a number of deletions were found. Here we characterize...

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Detalles Bibliográficos
Autores principales: Le Guédard, Sandie, Faugère, Valérie, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2533038/
https://www.ncbi.nlm.nih.gov/pubmed/17277737

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2533038/
https://www.ncbi.nlm.nih.gov/pubmed/17277737

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