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A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.
Cho, Hyun-Ju; Park, Hong-Joon; Trexler, Maria; Venselaar, Hanka; Lee, Kyu Yup; Robertson, Nahid G; Baek, Jeong-In; Kang, Beom Sik; Morton, Cynthia C; Vriend, Gert; Patthy, László; Kim, Un-Kyung.
Afiliación
  • Cho HJ; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 702-701, South Korea.
  • Park HJ; Soree Ear Clinics, Seoul, South Korea.
  • Trexler M; Institute of Enzymology, Biological Research Center, Hungarian Academy of Sciences, Budapest, Hungary.
  • Venselaar H; Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Lee KY; Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Kyungpook National University, Daegu, South Korea.
  • Robertson NG; Departments of Obstetrics, Gynecology and Reproductive Biology, Brigham & Women's Hospital, Harvard Medical School, Boston, Ma, USA.
  • Baek JI; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 702-701, South Korea.
  • Kang BS; School of Life Science and Biotechnology, Kyungpook National University, Daegu 702-701, South Korea.
  • Morton CC; Departments of Obstetrics, Gynecology and Reproductive Biology, Brigham & Women's Hospital, Harvard Medical School, Boston, Ma, USA.
  • Vriend G; Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, Ma, USA.
  • Patthy L; Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Kim UK; Institute of Enzymology, Biological Research Center, Hungarian Academy of Sciences, Budapest, Hungary.
J Mol Med (Berl) ; 90(11): 1321-1331, 2012 Nov.
Article en En | MEDLINE | ID: mdl-22610276
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de la Matriz Extracelular / Pérdida Auditiva / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Mol Med (Berl) Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2012 Tipo del documento: Article País de afiliación: Corea del Sur Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de la Matriz Extracelular / Pérdida Auditiva / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Mol Med (Berl) Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2012 Tipo del documento: Article País de afiliación: Corea del Sur Pais de publicación: Alemania