SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct
Zhao Jiandong; Yuan Yongyi; Chen Jing; Huang Shasha; Wang Guojian; Han Dongyi; Dai Pu · 2012 · Journal of Translational Medicine
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
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Abstract
Abstract 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 Chinese patients (481 males, 442 females) with NSEVA were recruited. Among these, 68 patients (7.4%) were found to carry only one mutant allele of SLC26A4 and 39 patients (4.2%) lacke
Abstract by Zhao Jiandong; Yuan Yongyi; Chen Jing; Huang Shasha; Wang Guojian; Han Dongyi; Dai Pu, Journal of Translational Medicine (2012) — licensed CC BY 4.0.
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Metadata source: DOAJ · DOI 10.1186/1479-5876-10-82