Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

Autosomal recessive non-syndromic hearing loss is one of the most common monogenic diseases. It is characterized by high allelic and locus heterogeneities that make a precise diagnosis difficult. In this study, whole-exome sequencing was performed for an affected patient allowing us to identify a ne...

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Detalles Bibliográficos
Autores principales: Tlili, Abdelaziz, Fahd Al Mutery, Abdullah, Mahfood, Mona, Kamal Eddine Ahmad Mohamed, Walaa, Bajou, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612695/
https://www.ncbi.nlm.nih.gov/pubmed/28945813
http://dx.doi.org/10.1371/journal.pone.0185281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612695/
https://www.ncbi.nlm.nih.gov/pubmed/28945813
http://dx.doi.org/10.1371/journal.pone.0185281

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