A Novel Homozygous MYO7A Mutation: Case Report

MYO7A is an unconventional myosin that is essential for ordinary hearing and vision; mutations in the MYO7A gene result in Usher syndrome type 1B and other disorders. In this manuscript, we reported a mutation (c.4705delA) in exon 35, causing the alteration of a Ser amino acid to Ala at codon 1569...

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Bibliographic Details
Main Authors: Mahsa Ahmadi, Ali Dehghanifard, Alireza Isazadeh, Saba Hajazimian, Mahshad Mehdizadeh, Shiva Rahaei, Soudabeh Hosseini, Ebrahim Kalantari
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2018-05-01
Series:Acta Medica Iranica
Subjects:
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/6120