A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Deafblindness is mostly due to Usher syndrome caused by recessive mutations in the known genes. Mutation-negative patients therefore either have distinct diseases, mutations in yet unknown Usher genes or in extra-exonic parts of the known genes – to date a largely unexplored possibility. In a consan...

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Detalles Bibliográficos
Autores principales: Khan, Arif O., Becirovic, Elvir, Betz, Christian, Neuhaus, Christine, Altmüller, Janine, Maria Riedmayr, Lisa, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431179/
https://www.ncbi.nlm.nih.gov/pubmed/28469144
http://dx.doi.org/10.1038/s41598-017-01577-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431179/
https://www.ncbi.nlm.nih.gov/pubmed/28469144
http://dx.doi.org/10.1038/s41598-017-01577-8

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