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
- Auteur
- 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
- Editeur
- Nature Publishing, Avenel, NJ
- Pays de publication
- United States
- Type de document
- Article
- Langue
- English
- Mot clé (fr)
- Aborigène Conseil génétique Délétion Effet fondateur Fréquence Gène Leucinose Maladie héréditaire Porteur Recombinaison Urine Taiwan Aminoacidopathie Enzymopathie Métabolisme pathologie Système nerveux pathologie Asie
- Mot clé (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
- Mot clé (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 Sciences biologiques et medicales / 002B Sciences medicales / 002B22 Maladies metaboliques / 002B22D Maladies métaboliques héréditaires et congénitales / 002B22D01 Aminoacidopathies
- Discipline
- Metabolic diseases
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 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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