Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy : evidence of homozygous deletions of the SMN gene in unaffected individuals
- Author
- HAHNEN, E; FORKERT, R; MARKE, C; RUDNIK-SCHÖNEBORN, S; SCHÖNLING, J; ZERRES, K; WIRTH, B
Inst. human genetics, 53111 Bonn, Germany - Source
Human molecular genetics (Print). 1995, Vol 4, Num 10, pp 1927-1933 ; ref : 31 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Amyotrophie médullaire Chromosome B5 Délétion Gène Génétique Homme Mutation Phénotype Maladie dégénérative Moelle épinière pathologie Neuromusculaire pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Spinal amyotrophy B5-Chromosome Deletion Gene Genetics Human Mutation Phenotype Degenerative disease Spinal cord disease Neuromuscular diseases Central nervous system disease Nervous system diseases
- Keyword (es)
- Amiotrofía medular Cromosoma B5 Deleción Gen Genética Hombre Mutación Fenotipo Enfermedad degenerativa 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
- 3684201
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/4.10.1927 
https://dx.doi.org/10.1093/hmg/4.10.1927
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