An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype : further evidence for SMN as the primary SMA-determining gene
- Author
- PARSONS, D. W1 ; MCANDREW, P. E1 ; MONANI, U. R2 ; MENDELL, J. R3 ; BURGHES, A. H. M2 3 4 ; PRIOR, T. W1
[1] Department of Pathology, Molecular Pathology Laboratory, The Ohio State University College of Medicine, Columbus, OH 43210, United States
[2] Department of Molecular Genetics, College of Biological Sciences, The Ohio State University College of Medicine, Columbus, OH 43210, United States
[3] Department of Neurology, The Ohio State University College of Medicine, Columbus, OH 43210, United States
[4] Department of Medical Biochemistry, The Ohio State University College of Medicine, Columbus, OH 43210, United States - Source
Human molecular genetics (Print). 1996, Vol 5, Num 11, pp 1727-1732 ; ref : 36 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Amyotrophie médullaire Gène Génétique Homme Multigène Mutation insertion Maladie dégénérative Maladie héréditaire Moelle épinière pathologie Neuromusculaire pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Spinal amyotrophy Gene Genetics Human Multigene family Insertion mutation Degenerative disease Genetic disease Spinal cord disease Neuromuscular diseases Central nervous system disease Nervous system diseases
- Keyword (es)
- Amiotrofía medular Gen Genética Hombre Multigén Mutación inserción Enfermedad degenerativa Enfermedad hereditaria Médula espinal patología Neuromuscular patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3255589
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
10.1093/hmg/5.11.1727 
https://dx.doi.org/10.1093/hmg/5.11.1727
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