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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: | , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Mary Ann Liebert, Inc.
2009
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| Matèries: | |
| 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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