Article
Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.
Genetic testing and molecular biomarkers - 1 May 2011
Mercer Stephen, Mutton Patricia, Dahl Hans-Henrik M
Abstract excerpt
Mutations in the SLC26A4 gene can cause both Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct, two conditions associated with sensorineural hearing loss. We analyzed the SLC26A4 gene in 44 hearing-impaired patients by nested polymerase chain reaction followed by high-resol...
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