Novel Deleterious Mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness
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چکیده
منابع مشابه
Mutation Analysis of Connexin 26 Gene and Del (GJB6-D13S1830) in Patients with Hereditary Deafness from Two Provinces in Iran
Mutations in the connexin 26 (Cx26) gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic hearing loss (ARNSHL). There are many known mutations in this gene that cause hearing loss. A single frameshift, at position 35 (35delG) accounts for 50% of mutations in the Caucasian population with carrier frequencies of 1.5-2.5%. In this study we investigated ...
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ژورنال
عنوان ژورنال: Pakistan Journal of Medical Sciences
سال: 2018
ISSN: 1681-715X,1682-024X
DOI: 10.12669/pjms.35.1.98