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

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 rev...

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Autori principali: Zhao, Jiandong, Yuan, Yongyi, Chen, Jing, Huang, Shasha, Wang, Guojian, Han, Dongyi, Dai, Pu
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2012
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3406975/
https://ncbi.nlm.nih.gov/pubmed/22551242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1479-5876-10-82
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