SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct.

Abstract excerpt

BACKGROUND: Many patients with enlarged vestibular aqueduct (EVA) have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation. In this study, multiplex ligation-dependent probe amplification (MLPA) was used to screen for copy number variations (CNVs) of SLC26A4 and to reveal the pathogenic mechanisms of non-syndromic EVA (NSEVA). METHODS: Between January 2003 and March 2010, 923...

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