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Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.
Ryu, Nari; Lee, Seokwon; Park, Hong-Joon; Lee, Byeonghyeon; Kwon, Tae-Jun; Bok, Jinwoong; Park, Chan Ik; Lee, Kyu-Yup; Baek, Jeong-In; Kim, Un-Kyung.
Afiliación
  • Ryu N; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea.
  • Lee S; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea.
  • Park HJ; Soree Ear Clinics, Seoul, Republic of Korea.
  • Lee B; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea.
  • Kwon TJ; Laboratory Animal Center, Daegu-Gyeongbuk Medical Innovation Foundation (DGMIF), Daegu, Republic of Korea.
  • Bok J; Department of Anatomy, Yonsei University College of Medicine, Seoul, Republic of Korea; Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea; BK21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Park CI; Department of Aroma-applied Industry, Daegu Haany University, Gyeongsan, Republic of Korea.
  • Lee KY; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, Kyungpook National University, Daegu, Republic of Korea.
  • Baek JI; Department of Aroma-applied Industry, Daegu Haany University, Gyeongsan, Republic of Korea. Electronic address: baek@dhu.ac.kr.
  • Kim UK; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea. Electronic address: kimuk@knu.ac.kr.
Gene ; 627: 233-238, 2017 Sep 05.
Article en En | MEDLINE | ID: mdl-28647561

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Proteínas de Transporte Vesicular de Glutamato / Pérdida Auditiva / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Gene Año: 2017 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Proteínas de Transporte Vesicular de Glutamato / Pérdida Auditiva / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Gene Año: 2017 Tipo del documento: Article
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