A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A...
A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4
About this item
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Author / Creator
Publisher
Tehran: Academy of Medical Sciences of I.R. Iran
Journal title
Language
English
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Publication information
Publisher
Tehran: Academy of Medical Sciences of I.R. Iran
Subjects
More information
Scope and Contents
Contents
After GJB2, SLC26A4 is the second most common contributor to autosomal recessive nonsyndromic hearing loss (ARNSHL) worldwide. In this study, we used Exome Sequencing (ES) to present a village with 31 individuals affected by hereditary hearing loss (HHL) in southeastern Iran near the border of Pakistan. The village harbored the known pathogenic mis...
Alternative Titles
Full title
A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11496598
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11496598
Other Identifiers
ISSN
1029-2977
E-ISSN
1735-3947
DOI
10.34172/aim.28745
