Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL fam...

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Autori principali: Shafique, Sobia, Siddiqi, Saima, Schraders, Margit, Oostrik, Jaap, Ayub, Humaira, Bilal, Ammad, Ajmal, Muhammad, Seco, Celia Zazo, Strom, Tim M., Mansoor, Atika, Mazhar, Kehkashan, Shah, Syed Tahir A., Hussain, Alamdar, Azam, Maleeha, Kremer, Hannie, Qamar, Raheel
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4065008/
https://ncbi.nlm.nih.gov/pubmed/24949729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0100146
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