FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
- Author
- MELONI, Ilaria1 ; MUSCETTOLA, Maddalena1 ; ROPERS, Hans-Hilger5 ; MAGI, Barbara6 ; BELLAN, Cristina7 ; VOLPI, Nila8 ; YNTEMA, Helger G9 ; LEWIS, Sarah E10 ; SCHAFFER, Jean E10 ; RENIERI, Alessandra1 ; RAYNAUD, Martine2 ; LONGO, Ilaria1 ; BRUTTINI, Mirella1 ; MOIZARD, Marie-Pierre2 ; GOMOT, Marie2 ; CHELLY, Jamel3 ; DES PORTES, Vincent3 ; FRYNS, Jean-Pierre4
[1] Medical Genetics, Department of Molecular Biology, University of Siena, Italy
[2] Service de Génétique, Inserm U316, Tours, France
[3] Inserm U129-ICGM, CHU Cochin, Paris, France
[4] Genetics Department, University of Leuven, Belgium
[5] Max-Planck Institute for Molecular Genetics, Berlin, Germany
[6] Biochemistry, Department of Molecular of Biology, University of Siena, Italy
[7] Department of Pathology, University of Siena, Italy
[8] Department of Biomedical Sciences, University of Siena, Italy
[9] Department of Human Genetics, Nijmegen, Netherlands
[10] Departments of Internal Medicine, Molecular Biology & Pharmacology, Washington University, St. Louis, Missouri, United States - Source
Nature genetics. 2002, Vol 30, Num 4, pp 436-440 ; ref : 30 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Activité enzymatique Arriération mentale Caractère lié au sexe Chromosome X Etude familiale Homme Mutation Fatty-acid-CoaA ligase Gène FACL4 Déficience intellectuelle Enzyme Ligases Trouble développement
- Keyword (en)
- Enzymatic activity Mental retardation Sex linked character X-Chromosome Family study Human Mutation Intellectual deficiency Enzyme Ligases Developmental disorder
- Keyword (es)
- Actividad enzimática Retraso mental Carácter ligado al sexo Cromosoma X Estudio familiar Hombre Mutación Deficiencia intelectual Enzima Ligases Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23D Mental and behavioral disorders
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 13590442
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/ng857 
https://dx.doi.org/10.1038/ng857
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