Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
- Author
- TAKASHIMA, Hiroshi1 ; BOERKOEL, Cornelius F1 ; STOCKTON, David W1 2 9 ; LUPSKI, James R1 10 ; JOHN, Joy1 2 ; GULAM MUSTAFA SAIFI1 ; SALIH, Mustafa A. M3 ; ARMSTRONG, Dawna4 ; YUXIN MAO5 ; QUIOCHO, Florante A5 6 ; ROA, Benjamin B1 7 ; NAKAGAWA, Masanori8
[1] Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, United States
[2] Kleberg Genotyping Center, Baylor College of Medicine, Houston, Texas, United States
[3] Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, Riyadh, Saudi Arabia
[4] Department of Pathology, Texas Children's Hospital, Houston, Texas, United States
[5] Howanl Hughes Medical Institute, Houston, Texas, United States
[6] Department of Biochemistry and Molecular Biology, Houston, Texas, United States
[7] Baylor DNA Diagnostic Laboratory Baylor College of Medicine, Houston, Texas, United States
[8] Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan
[9] Department of Medicine and of Ophthalmology, Baylor College of Medicine, Houston, Texas, United States
[10] Department of Pediatrics, Texas Children's Hospital, Houston, Texas, United States - Source
Nature genetics. 2002, Vol 32, Num 2, pp 267-272, 6 p ; ref : 30 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Ataxie spinocérébelleuse DNA topoisomerase DNA Dépendance Homme Mutation Neuropathie axonale Réparation Gène TDP1 Enzyme Isomerases
- Keyword (en)
- Spinocerebellar ataxia DNA topoisomerase DNA Dependence Human Mutation Axonal neuropathy Repair Enzyme Isomerases
- Keyword (es)
- Ataxia spinocerebelosa DNA topoisomerase DNA Dependencia Hombre Mutación Neuropatía axonal Reparación Enzima Isomerases
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04C Molecular genetics / 002A04C07 Mutagenesis. Repair
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 13966687
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/ng987 
https://dx.doi.org/10.1038/ng987
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