Identification of PAHX, a Refsum disease gene
- Author
- MIHALIK, S. J1 2 ; MORRELL, J. C3 ; KIM, D1 ; SACKSTEDER, K. A3 ; WATKINS, P. A1 2 ; GOULD, S. J1 3 4
[1] The Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States
[2] Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States
[3] Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States
[4] Department of Cell Biology and Anatomy, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States - Source
Nature genetics. 1997, Vol 17, Num 2, pp 185-189 ; ref : 24 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Activité enzymatique Adressage moléculaire Carte génétique Chromosome C10 Homme Homologie Interaction moléculaire Lipide Localisation Mutation Peroxysome Refsum maladie Séquence nucléotide Gène PAHX Phytanoyl-CoA α-hydrolase Enzymopathie Lipoïdose Maladie dégénérative Maladie héréditaire Métabolisme pathologie Nerf périphérique pathologie Système nerveux pathologie
- Keyword (en)
- Enzymatic activity Molecular targeting Genetic mapping Chromosome C10 Human Homology Molecular interaction Lipids Localization Mutation Peroxisome Refsum disease Nucleotide sequence Enzymopathy Lipoidosis Degenerative disease Genetic disease Metabolic diseases Peripheral nerve disease Nervous system diseases
- Keyword (es)
- Actividad enzimática Direccionamiento molecular Mapa genético Cromosoma C10 Hombre Homología Interacción molecular Lípido Localización Mutación Peroxisoma Heredopatía atáxica Refsum Secuencia nucleótido Enzimopatía Lipoidosis Enfermedad degenerativa Enfermedad hereditaria Metabolismo patología Nervio periférico patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A08 Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2847202
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/ng1097-185 
https://dx.doi.org/10.1038/ng1097-185
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