The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families

OBJECTIVE(S): Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly heterogeneous disorders such as non-syndromic hearing loss (NSHL). Hearing impairments could be classified into syndromic and non-sy...

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Vydáno v:Iran J Basic Med Sci
Hlavní autoři: Razmara, Ehsan, Bitarafan, Fatemeh, Esmaeilzadeh-Gharehdaghi, Elika, Almadani, Navid, Garshasbi, Masoud
Médium: Artigo
Jazyk:Inglês
Vydáno: Mashhad University of Medical Sciences 2018
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5817178/
https://ncbi.nlm.nih.gov/pubmed/29511501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22038/IJBMS.2018.26269.6441
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