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Correlation between genotype and phenotype in patients with bi‐allelic SLC26A4 mutations
Authors:M.H. Song  S.H. Kim  J.‐H. Lee  K.‐A. Lee  S. Shin  U.‐K. Kim  J. Bok  K.‐Y. Lee  J.Y. Choi  H.J. Park
Affiliation:1. Department of Otorhinolaryngology;2. Department of Pharmacology, Yonsei University College of Medicine, , Seoul, Republic of Korea;3. Department of Laboratory Medicine, Yonsei University College of Medicine, , Seoul, Republic of Korea;4. Department of Biology, College of Natural Sciences, Kyungpook National University, , Daegu, Republic of Korea;5. Department of Anatomy, Yonsei University College of Medicine, , Seoul, Republic of Korea;6. Department of Otorhinolaryngology, Kyungpook National University, , Daegu, Republic of Korea;7. BK21 Project for Medical Science;8. Soree Ear Clinics, , Seoul, Republic of Korea
Abstract:
Keywords:anion exchanger  Mondini dysplasia  pendred syndrome  RNA splicing
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