Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

BACKGROUND: Usher Syndrome is the leading cause of inherited deaf-blindness. It is divided into three subtypes, of which the most common is Usher type 2, and the USH2A gene accounts for 75-80% of cases. Despite recent sequencing strategies, in our cohort a significant proportion of individuals with...

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Detalles Bibliográficos
Autores principales: Steele-Stallard, Heather B, Le Quesne Stabej, Polona, Lenassi, Eva, Luxon, Linda M, Claustres, Mireille, Roux, Anne-Francoise, Webster, Andrew R, Bitner-Glindzicz, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751126/
https://www.ncbi.nlm.nih.gov/pubmed/23924366
http://dx.doi.org/10.1186/1750-1172-8-122

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