A Novel SLC26A4 (PDS) Deafness Mutation Retained in the Endoplasmic Reticulum
نویسندگان
چکیده
منابع مشابه
A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum.
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...
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ژورنال
عنوان ژورنال: Archives of Otolaryngology–Head & Neck Surgery
سال: 2008
ISSN: 0886-4470
DOI: 10.1001/archotol.134.4.403