MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)
- Auteur
- KING, Richard A1 2 3 ; WILLAERT, Rebecca K1 ; SCHMIDT, Ramona M1 ; PIETSCH, Jacy2 ; SAVAGE, Sarah2 ; BROTT, Marcia J2 ; FRYER, James P2 ; SUMMERS, C. Gail4 5 ; OETTING, William S1 2 3
[1] Department of Genetics, Cell Biology & Development, University of Minnesota, Minneapolis, United States
[2] Department of Medicine, University of Minnesota, Minneapolis, United States
[3] Institute of Human Genetics, University of Minnesota, Minneapolis, United States
[4] Department of Ophthalmology, University of Minnesota, Minneapolis, United States
[5] Department of Pediatrics, University of Minnesota, Minneapolis, United States - Source
American journal of human genetics. 2003, Vol 73, Num 3, pp 638-645, 8 p ; ref : 2 p.1/4
- Editeur
- University of Chicago Press, Chicago, IL
- Pays de publication
- United States
- Type de document
- Article
- Langue
- English
- Mot clé (fr)
- Albinisme oculocutané Mutation Mélatonine Phénotype Aminoacidopathie Enzymopathie Maladie héréditaire Métabolisme pathologie Oeil pathologie Peau pathologie Trouble pigmentation Uvée pathologie
- Mot clé (en)
- Oculocutaneous albinism Mutation Melatonin Phenotype Aminoacid disorder Enzymopathy Genetic disease Metabolic diseases Eye disease Skin disease Pigmentation disorder Uvea disease
- Mot clé (es)
- Albinismo oculocutáneo Mutación Melatonina Fenotipo Aminoacido alteración Enzimopatía Enfermedad hereditaria Metabolismo patología Ojo patología Piel patología Trastorno pigmentación Uvea patología
- Classification
- Pascal
- 002 Sciences biologiques et medicales / 002B Sciences medicales / 002B22 Maladies metaboliques / 002B22D Maladies métaboliques héréditaires et congénitales / 002B22D01 Aminoacidopathies
- Discipline
- Metabolic diseases
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 15126085
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
10.1086/377569 
https://dx.doi.org/10.1086/377569
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