1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease
- Author
- TUTEJA, R1 ; BEMBI, B; AGOSTI, E; BARALLE, F. E1
[1] International cent. genetic eng. biotechnology-UNIDO, 34012 Trieste, Italy - Source
Human molecular genetics (Print). 1993, Vol 2, Num 6, pp 781-784 ; ref : 18 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Déficit Glucosylceramidase Gène Homme Mutation Sphingolipidose héréditaire Gaucher Encéphale pathologie Enzyme Maladie héréditaire Métabolisme pathologie Système nerveux pathologie
- Keyword (en)
- Deficiency Glucosylceramidase Gene Human Mutation Gaucher disease Cerebral disorder Enzyme Genetic disease Metabolic diseases Nervous system diseases
- Keyword (es)
- Déficiencia Glucosylceramidase Gen Hombre Mutación Esfingolipidosis hereditaria Gaucher Encéfalo patología Enzima Enfermedad hereditaria Metabolismo 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
- 4929738
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/2.6.781 
https://dx.doi.org/10.1093/hmg/2.6.781
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