AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
- Autor
- AGARWAL, Anil K1 ; ARIOGLU, Elif2 ; DE ALMEIDA, Salome3 ; AKKOC, Nurullah4 ; TAYLOR, Simeon I2 ; BOWCOCK, Anne M5 ; BARNES, Robert I6 ; GARG, Abhimanyu1
[1] Department of Internal Medicine, Division of Nutrition and Metabolic Diseases and Center for Human Nutrition, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, Texas 75390, United States
[2] Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, United States
[3] Servico de Genetica Medica, Hospital de Dona Estefania, Lisboa, Portugal
[4] Dokuz Eylul University School of Medicine, Department of Internal Medicine, Inciralti, Izmir, Turkey
[5] Division of Human Genetics, Departments of Genetics, Pediatrics and Medicine, Washington University School of Medicine, St Louis, Missouri, United States
[6] McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, United States - Fuente
Nature genetics. 2002, Vol 31, Num 1, pp 21-23 ; ref : 15 ref
- Editor
- Nature Publishing Group, London
- País de la publicación
- United Kingdom
- Tipo de documento
- Article
- Idioma
- English
- Palabra clave (fr)
- 1-Acylglycerol-3-phosphate O-acyltransferase Carte génétique Chromosome C9 Congénital Etude familiale Généralisé Homme Liaison génétique Lipodystrophie Mutation Gène AGPAT2 Acyltransferases Enzyme Peau pathologie Tissu adipeux pathologie Transferases
- Palabra clave (in)
- 1-Acylglycerol-3-phosphate O-acyltransferase Genetic mapping Chromosome C9 Congenital Family study Generalized Human Linkage Lipodystrophy Mutation Acyltransferases Enzyme Skin disease Adipose tissue disorders Transferases
- Palabra clave (es)
- 1-Acylglycerol-3-phosphate O-acyltransferase Mapa genético Cromosoma C9 Congénito Estudio familiar Generalizado Hombre Ligamiento genético Lipodistrofia Mutación Acyltransferases Enzima Piel patología Tejido adiposo patología Transferases
- Clasificación
- 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 / 002B08 Dermatology / 002B08J Skin involvement in other diseases. Miscellaneous. General aspects
- Disciplina
- Dermatology Eukaryotes genetics. Biological and molecular evolution
- Procedencia
- Inist-CNRS
- Base de datos
- PASCAL
- Identificador INIST
- 14184185
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/ng880 
https://dx.doi.org/10.1038/ng880
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