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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pasteur Institute of Iran
2021
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| 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 |