The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
- Author
- ROUZIER, C1 2 ; LE GUEDARD-MEREUZE, S3 ; PELLISSIER, J.-F7 ; RICHELME, C8 ; ESPIL, C9 ; CHABROL, B10 ; PAQUIS-FLUCKLINGER, V1 2 ; FRAGAKI, K1 2 ; SERRE, V4 ; MIRO, J3 ; TUFFERY-GIRAUD, S3 ; CHAUSSENOT, A1 ; BANNWARTH, S1 2 ; CARUBA, C5 ; OSTERGAARD, E6
[1] Department of Medical Genetics, Archet 2 Hospital, CHU of Nice, France
[2] IGMRC, FRE CNRS / UNSA 3086, Nice Sophia-Antipolis University, Nice, France
[3] Université Montpellier 1, UFR Médecine, Montpellier, France
[4] INSERM U781, Necker Enfants Malades Hospital, Paris, France
[5] Department of Biochemistry, Pasteur Hospital, CHU of Nice, France
[6] Department of Clinical Genetics, National University Hospital Rigshospitalet, Copenhagen, Denmark
[7] Department of Neuropathology, Timone Hospital, CHU of Marseille, France
[8] Department of Pediatrics, Archet 2 Hospital, CHU of Nice, France
[9] Department of Neuropediatrics, CHU Pellegrin, Bordeaux, France
[10] Department of Neuropediatrics, Timone Hospital, CHU of Marseille, France - Source
Journal of medical genetics. 2010, Vol 47, Num 10, pp 670-676, 7 p ; ref : 25 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Génétique Homme Mutation Phénotype Protéine
- Keyword (en)
- Genetics Human Mutation Phenotype Protein
- Keyword (es)
- Genética Hombre Mutación Fenotipo Proteína
- 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 / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 23328095
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.2009.073445 
https://dx.doi.org/10.1136/jmg.2009.073445
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