The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene
- Author
- SUZUKI, Tamio1 ; WEI LI2 ; QING ZHANG2 ; NOVAK, Edward K2 ; SVIDERSKAYA, Elena V3 ; WILSON, Amanda3 ; BENNETT, Dorothy C3 ; ROE, Bruce A4 ; SWANK, Richard T2 ; SPRITZ, Richard A1
[1] Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 Enst Ninth Avenue, B161, Denver, Colorado 80262, United States
[2] Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, United States
[3] Department of Anatomy and Developmental Biology, St. George's Hospital Medical School, London SW17 0RE, United Kingdom
[4] Department of Chemistry and Biochemistry, University of Oklahoma, Norman, Oklahoma 73019, United States - Source
Genomics (San Diego, Calif.). 2001, Vol 78, Num 1-2, pp 30-37 ; ref : 35 ref
- ISSN
- 0888-7543
- Scientific domain
- Cell biology, histology; Genetics
- Publisher
- Elsevier, San Diego, CA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Gène Hermansky Pudlak syndrome Homme Lysosome Mélanocyte Mélanosome Produit gène Souris Thrombocyte Hémopathie Maladie héréditaire Mammalia Métabolisme pathologie Oeil pathologie Peau pathologie Rodentia Vertebrata
- Keyword (en)
- Gene Hermansky Pudlak syndrome Human Lysosome Melanocyte Melanosome Gene product Mouse Platelet Hemopathy Genetic disease Mammalia Metabolic diseases Eye disease Skin disease Rodentia Vertebrata
- Keyword (es)
- Gen Hermansky Pudlak síndrome Hombre Lisosoma Melanocito Melanosoma Producto gene Ratón Trombocito Hemopatía Enfermedad hereditaria Mammalia Metabolismo patología Ojo patología Piel patología Rodentia Vertebrata
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14105435
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
10.1006/geno.2001.6644 
https://dx.doi.org/10.1006/geno.2001.6644
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