Efficient Molecular Genetic Diagnosis of Enlarged Vestibular Aqueducts in East Asians

Context: Enlargement of the vestibular aqueduct (EVA) is a commonly detected inner ear anomaly related to hearing loss and often associated with mutations of SLC26A4 encoding pendrin, a transmembrane exchanger of Cl(−), I(−), and HCO(3)(−). Here we describe the phenotypes of 27 Korean EVA subjects a...

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Autors principals: Choi, Byung Yoon, Stewart, Andrew K., Nishimura, Katherine K., Cha, Won Jae, Seong, Moon-Woo, Park, Sung Sup, Kim, Seung Won, Chun, Yang Sook, Chung, Jong Woo, Park, Shi-Nae, Chang, Sun O., Kim, Chong-Sun, Alper, Seth L., Griffith, Andrew J., Oh, Seung-Ha
Format: Artigo
Idioma:Inglês
Publicat: Mary Ann Liebert, Inc. 2009
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2953255/
https://ncbi.nlm.nih.gov/pubmed/19645628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2009.0054
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