Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
- Author
- PARK, H.-J1 ; SHAUKAT, S2 ; RIAZUDDIN, S2 5 ; KABRA, M6 ; ERDENETUNGALAG, R11 ; RADNAABAZAR, J11 ; KHAN, S2 ; PANDYA, A12 ; USAMI, S.-I10 ; NANCE, W. E12 ; WILCOX, E. R5 ; GRIFFITH, A. J1 13 ; LIU, X.-Z3 ; HAHN, S. H4 ; NAZ, S5 ; GHOSH, M6 ; KIM, H.-N7 ; MOON, S.-K8 ; ABE, S9 ; TUKAMOTO, K10
[1] Section on Gene Structure and Function, National Institutes of Health, Rockville, Maryland, United States
[2] Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
[3] Department of Otolaryngology, University of Miami, Miami, Florida, United States
[4] Department of Laboratory Medicine, Mayo Clinic & Foundation, Rochester, Minnesota, United States
[5] Section on Human Genetics, National Institutes of Health, Rockville, Maryland, United States
[6] Genetics Unit, Department of Paediatrics, All-India Institute of Medical Sciences, Delhi, India
[7] Department of Otorhinolaryngology, Yonsei University, Seoul, Korea, Republic of
[8] Department of Otolaryngology, Ajou University, Suwon, Korea, Republic of
[9] Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan
[10] Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
[11] Department of Human Genetics, Maternal and Child Health Research Centre, Ulaanbaatar, Mongolia
[12] Department of Human Genetics, Medical College of Virginia, Campus of Virginia Commonwealth University, Richmond, Virginia, United States
[13] Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, United States - Source
Journal of medical genetics. 2003, Vol 40, Num 4, pp 242-248, 7 p ; ref : 40 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Déterminisme génétique Epidémiologie Fréquence génique Gène Homme Mutation Pathogénie Pendred syndrome Surdité Asie du sud est Asie du sud Endocrinopathie Maladie héréditaire ORL pathologie Thyroïde pathologie Trouble audition Asie
- Keyword (en)
- Genetic determinism Epidemiology Gene frequency Gene Human Mutation Pathogenesis Pendred syndrome Hearing loss South east Asia South Asia Endocrinopathy Genetic disease ENT disease Thyroid diseases Auditory disorder Asia
- Keyword (es)
- Determinismo genético Epidemiología Frecuencia génica Gen Hombre Mutación Patogenia Pendred síndrome Sordera Asia del sureste Asia del sur Endocrinopatía Enfermedad hereditaria ORL patología Tiroides patología Trastorno auditivo Asia
- 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
- 14720439
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.40.4.242 
https://dx.doi.org/10.1136/jmg.40.4.242
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