A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter
- Author
- BLANTON, S. H1 2 ; LIANG, C. Y3 ; LIU, Y. F3 ; BALKANY, T4 ; NANCE, W. E2 ; LIU, X. Z2 3 4 ; CAI, M. W3 ; PANDYA, A2 ; DU, L. L4 ; LANDA, B2 ; MUMMALANNI, S2 ; LI, K. S3 ; CHEN, Z. Y5 ; QIN, X. N3
[1] Department of Pediatrics, University of Virginia, Charlottesville, VA, United States
[2] Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, United States
[3] Department of Otolaryngology, West China University of Medical Sciences, Chengdu, China
[4] Department of Otolaryngology, University of Miami, Miami, FL, United States
[5] Neurology Department, Massachusetts General Hospital and Neurobiology Department, Harvard Medical School, Boston, MA, United States - Source
Journal of medical genetics. 2002, Vol 39, Num 8, pp 567-570 ; ref : 13 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractère autosomique Caractère dominant Chromosome C12 Déterminisme génétique Etude familiale Gène Homme Liaison génétique Locus Pathogénie Phénotype Surdité perception Maladie héréditaire ORL pathologie Trouble audition
- Keyword (en)
- Autosomal character Dominant character Chromosome C12 Genetic determinism Family study Gene Human Linkage Locus Pathogenesis Phenotype Perception hearing loss Genetic disease ENT disease Auditory disorder
- Keyword (es)
- Carácter autosómico Carácter dominante Cromosoma C12 Determinismo genético Estudio familiar Gen Hombre Ligamiento genético Locus Patogenia Fenotipo Sordera percepción Enfermedad hereditaria ORL patología 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
- Otorhinolaryngology. Stomatology Tropical medicine
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 13822753
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
10.1136/jmg.39.8.567 
https://dx.doi.org/10.1136/jmg.39.8.567
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