Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese
- Author
- TSUKAMOTO, Koji1 ; SUZUKI, Hiroaki1 ; HARADA, Daisuke1 ; NAMBA, Atsushi2 ; ABE, Satoko3 ; USAMI, Shin-Ichi1
[1] Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan
[2] Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan
[3] Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan - Source
European journal of human genetics. 2003, Vol 11, Num 12, pp 916-922, 7 p ; ref : 32 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Aqueduc vestibulaire Association Distribution Fréquence Homme Japonais Mutation Pendred syndrome Surdité Endocrinopathie Maladie héréditaire ORL pathologie Thyroïde pathologie Trouble audition
- Keyword (en)
- Vestibular aqueduct Association Distribution Frequency Human Japanese Mutation Pendred syndrome Hearing loss Endocrinopathy Genetic disease ENT disease Thyroid diseases Auditory disorder
- Keyword (es)
- Acueducto vestibular Asociación Distribución Frecuencia Hombre Japonés Mutación Pendred síndrome Sordera Endocrinopatía Enfermedad hereditaria ORL patología Tiroides 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
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 15379744
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.5201073 
https://dx.doi.org/10.1038/sj.ejhg.5201073
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