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Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss

BACKGROUND: Hearing loss, a congenital genetic disorder in human, is difficult to diagnose. WES is a powerful approach for ethiological disgnosis of such disorders. METHODS: One Iranian family with two patients were attented in the study. Sequencing of known NSHL genes was carried out to recognize t...

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Detalles Bibliográficos
Autores principales: Azizi Malamiri, Reza, Mohammadi Asl, Javad, Ghanbari, Farideh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute of Iran 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8487680/
https://www.ncbi.nlm.nih.gov/pubmed/34425661
http://dx.doi.org/10.52547/ibj.25.5.368