Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination
- Author
- CHI, Ching-Shiang1 2 3 ; TSAI, Chi-Ren1 ; CHEN, Liang-Hui1 ; LEE, Hsiu-Fen1 ; MAK, Betty Suk-Chun1 ; YANG, Shu-Hsuang1 ; WANG, Tsai-Yuh1 ; SHU, San-Ging1 2 3 ; CHEN, Chao-Hui1 2 3
[1] Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan, Province of China
[2] Department of Pediatrics, National Yang-Ming University, Shih-Pai, Taipei, Taiwan, Province of China
[3] Chung Shan Medical University, Taichung, Taiwan, Province of China - Source
European journal of human genetics. 2003, Vol 11, Num 12, pp 931-936, 6 p ; ref : 27 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Aborigène Conseil génétique Délétion Effet fondateur Fréquence Gène Leucinose Maladie héréditaire Porteur Recombinaison Urine Taiwan Aminoacidopathie Enzymopathie Métabolisme pathologie Système nerveux pathologie Asie
- Keyword (en)
- Aboriginal Genetic counseling Deletion Founder effect Frequency Gene Leucinosis Genetic disease Carrier Recombination Urine Taiwan Aminoacid disorder Enzymopathy Metabolic diseases Nervous system diseases Asia
- Keyword (es)
- Aborigen Consejo genético Deleción Efecto fundador Frecuencia Gen Leucinosis Enfermedad hereditaria Portador Recombinación Orina Taiwan Aminoacido alteración Enzimopatía Metabolismo patología Sistema nervioso patología Asia
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 15379746
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.5201069 
https://dx.doi.org/10.1038/sj.ejhg.5201069
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