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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3751126/
https://ncbi.nlm.nih.gov/pubmed/23924366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-122
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