A splice-site mutation and overexpression of MY06 cause a similar phenotype in two families with autosomal dominant hearing loss
- Author
- HILGERT, Nele1 ; TOPSAKAL, Vedat2 ; VAN DINTHER, Joost3 ; OFFECIERS, Erwin3 ; VAN DE HEYNING, Paul2 ; VAN CAMP, Guy1
[1] Department ofMedical Genetics, University of Antwerp (UA), Antwerp, Belgium
[2] Department of Otorhinolaryngology, University Hospital Antwerp (UZA), University of Antwerp (UA), Antwerp, Belgium
[3] University ENT Department, Sint-Augustinus Hospital, Wilrijk (Antwerp), Belgium - Source
European journal of human genetics. 2008, Vol 16, Num 5, pp 593-602, 10 p ; ref : 26 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- DFNA22 MY06 autosomal dominant sensorineural hearing loss overexpression splice-site mutation
- Keyword (fr)
- Caractère autosomique Caractère dominant Epissage Epissure Etude familiale Génétique Maladie héréditaire Milieu familial Mutation Phénotype Site Surdité cochléaire Surdité de perception Pathologie ORL Pathologie de l'oreille interne Trouble de l'audition
- Keyword (en)
- Autosomal character Dominant character Splicing Splice Family study Genetics Genetic disease Family environment Mutation Phenotype Site Sensory hearing loss Perception hearing loss ENT disease Internal ear disease Auditory disorder
- Keyword (es)
- Carácter autosómico Carácter dominante Empalme Punto empalme Estudio familiar Genética Enfermedad hereditaria Medio familiar Mutación Fenotipo Sitio Sordera coclear Sordera percepción ORL patología Oido interno patología Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- 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
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20416468
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
10.1038/sj.ejhg.5202000 
https://dx.doi.org/10.1038/sj.ejhg.5202000
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