Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients
- Author
- DAVIDOVIC, L1 ; SACCONI, S2 ; BECHARA, E. G1 ; DELPLACE, S2 ; ALLEGRA, M2 ; DESNUELLE, C2 ; BARDONI, B1
[1] Institut de Pharmacologie Moléculaire et Cellulaire, CNRS UMR6097, Université de Nice Sophia-Antipolis, Valbonne, France
[2] INSERM U638 Faculté de Médecine, Université de Nice Sophia-Antipolis, Centre de Référence pour les Maladies Neuromusculaires, CHU de Nice, Nice, France - Source
Journal of medical genetics. 2008, Vol 45, Num 10, pp 679-685, 7 p ; ref : 25 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Altération Dystrophie musculaire Expression génique Facioscapulohuméral Génétique Homme Malade Muscle Protéine Syndrome du chromosome X fragile Fragilité chromosomique Maladie héréditaire Pathologie du système nerveux Pathologie neuromusculaire
- Keyword (en)
- Alteration Muscular dystrophy Gene expression Facioscapulohumeral Genetics Human Patient Muscle Protein Fragile X syndrome Chromosome fragility Genetic disease Nervous system diseases Neuromuscular diseases
- Keyword (es)
- Alteración Distrofia muscular Expresión genética Facioescapulohumeral Genética Hombre Enfermo Músculo Proteína X frágil síndrome Fragilidad cromosómica Enfermedad hereditaria Sistema nervioso patología Neuromuscular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23C Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20686752
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
10.1136/jmg.2008.060541 
https://dx.doi.org/10.1136/jmg.2008.060541
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