PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL

This publication has 19 references indexed in Scilit:

• The human glucocerebrosidase gene and pseudogene: Structure and evolution
  Genomics, 1989
• Gaucher Disease Type 1: Cloning and Characterization of a cDNA Encoding Acid β-Glucosidase from an Ashkenazi Jewish Patient
  DNA, 1988
• Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
  Proceedings of the National Academy of Sciences, 1988
• A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease
  New England Journal of Medicine, 1987
• Genetic heterogeneity in Gaucher disease.
  Journal of Medical Genetics, 1986
• Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene.
  Proceedings of the National Academy of Sciences, 1985
• Cross-reacting material in Gaucher disease fibroblasts.
  Proceedings of the National Academy of Sciences, 1984
• Gaucher's Disease in an Asymptomatic 72-Year-Old
  Published by American Medical Association (AMA) ,1977
• Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease.
  The Journal of Experimental Medicine, 1976
• Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
  Journal of Clinical Investigation, 1966