Molecular analysis of gaucher disease: Screening of patients in the Montreal/Quebec region
- 15 December 1991
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (4) , 469-474
- https://doi.org/10.1002/ajmg.1320410418
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activityAmerican Journal of Medical Genetics, 1991
- Sequence of Two Alleles Responsible for Gaucher DiseaseDNA and Cell Biology, 1990
- Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic formHuman Genetics, 1990
- Purification of lysosomal membrane-bound glucocerebrosidase from human cultured fibroblasts using high-performance liquid chromatographyAnalytical Biochemistry, 1989
- Gaucher Disease Type 1: Cloning and Characterization of a cDNA Encoding Acid β-Glucosidase from an Ashkenazi Jewish PatientDNA, 1988
- Gaucher disease: Accurate identification of asymptomatic French‐Canadian carrier using nonlabeled authentic sphingolipid substrate N‐palmitoyl dihydroglucocerebrosideAmerican Journal of Medical Genetics, 1987
- Gaucher disease: The effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblastsHuman Genetics, 1984
- A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye bindingAnalytical Biochemistry, 1976
- Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene.Proceedings of the National Academy of Sciences, 1975
- Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's diseaseBiochemical and Biophysical Research Communications, 1965