Identification of a new frameshift mutation (1801delAG) in the ALD gene
- Author
- BARCELO, A1 ; GIROS, M; SARDE, C. O2 ; MARTINEZ-BERMEJO, A; MANDEL, J. L2 ; PAMPOLS, T; EXTIVILL, X1
[1] Hosp. clin., serv. genètica, 08036 Barcelona, Spain
[2] Fac. médecine, inst. chimie biologique, 67085 Strasbourg, France - Source
Human molecular genetics (Print). 1994, Vol 3, Num 10, pp 1889-1890 ; ref : 8 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Adrénoleucodystrophie Caractère lié au sexe Gène Génétique Homme Lipide Mutation Encéphale pathologie Endocrinopathie Enzymopathie Maladie héréditaire Métabolisme pathologie Surrénale pathologie Système nerveux pathologie
- Keyword (en)
- Adrenoleukodystrophy Sex linked character Gene Genetics Human Lipids Mutation Cerebral disorder Endocrinopathy Enzymopathy Genetic disease Metabolic diseases Adrenal gland diseases Nervous system diseases
- Keyword (es)
- Adrenoleucodistrofia Carácter ligado al sexo Gen Genética Hombre Lípido Mutación Encéfalo patología Endocrinopatía Enzimopatía Enfermedad hereditaria Metabolismo patología Suprarrenal patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3302356
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
10.1093/hmg/3.10.1889 
https://dx.doi.org/10.1093/hmg/3.10.1889
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