Mutation analysis of the acid β-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase
- 1 November 2001
- journal article
- case report
- Published by Elsevier BV in Mutation research. Reviews in mutation research
- Vol. 483 (1-2), 89-94
- https://doi.org/10.1016/s0027-5107(01)00232-9
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher DiseaseAmerican Journal of Human Genetics, 1998
- Management of Neutralizing Antibody to Ceredase in a Patient With Type 3 Gaucher DiseasePEDIATRICS, 1997
- Gaucher disease: a prototype for molecular medicineCritical Reviews in Oncology/Hematology, 1996
- Glucocerebrosidase (Gaucher disease)Human Mutation, 1996
- The Role of Neurogenetics in Gaucher DiseaseArchives of Neurology, 1993
- Clinical heterogeneity among patients with Gaucher's diseaseJAMA, 1993
- Polymorphisms in the human glucocerebrosidase geneGenomics, 1992
- The human glucocerebrosidase gene and pseudogene: Structure and evolutionGenomics, 1989
- Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.Proceedings of the National Academy of Sciences of the United States of America, 1985
- Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's diseaseBiochemical and Biophysical Research Communications, 1965