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Article

Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.

International journal of molecular sciences - 10 Jan 2018

Roesch Sebastian, Bernardinelli Emanuele, Nofziger Charity, Tóth Miklós, Patsch Wolfgang, Rasp Gerd, Paulmichl Markus, Dossena Silvia

Abstract excerpt

The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger sequencing of SLC26A4...

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Identifiers

PMID: 29320412
DOI: 10.3390/ijms19010209
PMCID: PMC5796158

Genes

GJB2

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Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.PMID 29320412Read ↗

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