A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain
- Author
- CHO, Hyun-Ju1 ; PARK, Hong-Joon2 ; PATTHY, László3 ; KIM, Un-Kyung1 ; TREXLER, Maria3 ; VENSELAAR, Hanka4 ; LEE, Kyu-Yup5 ; ROBERTSON, Nahid G6 ; BAEK, Jeong-In1 ; BEOM SIK KANG7 ; MORTON, Cynthia C6 8 ; VRIEND, Gert4
[1] Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 702-701, Korea, Republic of
[2] Soree Ear Clinics, Seoul, Korea, Republic of
[3] Institute of Enzymology, Biological Research Center, Hungarian Academy of Sciences, Budapest, Hungary
[4] Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[5] Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Kyungpook National University, Daegu, Korea, Republic of
[6] Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States
[7] School of Life Science and Biotechnology, Kyungpook National University, Daegu 702-701, Korea, Republic of
[8] Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States - Source
Journal of molecular medicine (Berlin. Print). 2012, Vol 90, Num 11, pp 1321-1331, 11 p ; ref : 29 ref
- ISSN
- 0946-2716
- Scientific domain
- General medicine general surgery
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Cochlin DFNA9 Mutation Nonsyndromic hearing loss Protein stability
- Keyword (fr)
- Association Autosome Génétique Hérédité Maladie héréditaire Mutation Médecine Protéine Stabilité Surdité Pathologie ORL Propriété physicochimique Trouble de l'audition
- Keyword (en)
- Association Autosome Genetics Inheritance(genetics) Genetic disease Mutation Medicine Protein Stability Hearing loss ENT disease Physicochemical properties Auditory disorder
- Keyword (es)
- Asociación Autosoma Genética Herencia(genética) Enfermedad hereditaria Mutación Medicina Proteína Estabilidad Sordera ORL patología Propiedad fisicoquímica Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases
- Discipline
- Generalities in medical sciences Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26493655
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s00109-012-0911-2 
https://dx.doi.org/10.1007/s00109-012-0911-2
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