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Article

A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum.

Archives of otolaryngology--head & neck surgery - 1 Apr 2008

Brownstein Zippora N, Dror Amiel A, Gilony Dror, Migirov Lela, Hirschberg Koret, Avraham Karen B

Abstract excerpt

OBJECTIVES: To identify mutations in the SLC26A4 gene in individuals with nonsyndromic hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin protein, and to characterize novel mutations by means of localization in mammalian cells and effect of the mutation on the predicted model. DESIGN: Validation of the mutation by its exclusion in more than 300 individuals with normal...

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PMID: 18427006
DOI: 10.1001/archotol.134.4.403

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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