Correlation between severity and SMN protein level in spinal muscular atrophy
- Author
- LEFEBVRE, S1 ; BURLET, P1 ; LIU, Q2 ; BERTRANDY, S1 ; CLERMONT, O1 ; MUNNICH, A1 ; DREYFUSS, G2 ; MELKI, J1
[1] Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM Unité 393, IFREM, Institut Necker, Hôpital des Enfants Malades, 149 rue de Sèvres, 75743 Paris, France
[2] Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University ofPennsylvania School of Medicine, Philadelphia, PA 19104-6148, United States - Source
Nature genetics. 1997, Vol 16, Num 3, pp 265-269 ; ref : 17 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Amyotrophie médullaire Expression génique Gène Génétique Homme Mutation Neurone moteur Pathogénie Phénotype Survie Variation phénotypique Protéine Smn Maladie dégénérative Moelle épinière pathologie Neuromusculaire pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Spinal amyotrophy Gene expression Gene Genetics Human Mutation Motor neuron Pathogenesis Phenotype Survival Phenotype variation Degenerative disease Spinal cord disease Neuromuscular diseases Central nervous system disease Nervous system diseases
- Keyword (es)
- Amiotrofía medular Expresión genética Gen Genética Hombre Mutación Neurona motora Patogenia Fenotipo Sobrevivencia Variación fenotípica 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
- 2736501
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/ng0797-265 
https://dx.doi.org/10.1038/ng0797-265
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