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A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis

Author
BEI XIE; WEI WANG; MAHURAN, D. J
Univ. Toronto, hosp. sick children, res. inst., Toronto ON M5G 1X8, Canada
Source

American journal of human genetics. 1992, Vol 50, Num 5, pp 1046-1052 ; ref : 1/2 p

CODEN
AJHGAG
ISSN
0002-9297
Scientific domain
Genetics
Publisher
University of Chicago Press, Chicago, IL
Publication country
United States
Document type
Article
Language
English
Keyword (fr)
Biologie moléculaire Exploration Forme clinique Homme Lipide Maladie héréditaire Mutation Métabolisme pathologie Méthode Northern Méthode immunoblotting Réaction chaîne polymérase Sphingolipidose héréditaire Tay Sachs
Keyword (en)
Molecular biology Exploration Clinical form Human Lipids Genetic disease Mutation Metabolic diseases Northern blotting Immunoblotting assay Polymerase chain reaction Tay Sachs disease
Keyword (es)
Biología molecular Exploración Forma clínica Hombre Lípido Enfermedad hereditaria Mutación Metabolismo patología Reacción cadena polimerasa Esfingolipidosis hereditaria Tay Sachs
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
5318088

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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