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Genomics|January 1, 1989
The human glucocerebrosidase gene and pseudogene: structure and evolutionM Horowitz, S Wilder, Z Horowitz, et al.American Journal of Human Genetics|March 1, 1989
Characterization of mutations in Gaucher patients by cDNA cloningM Wigderson, N Firon, Z Horowitz, et al.DNA (Mary Ann Liebert, Inc.)|April 1, 1987
Efficient in vitro and in vivo expression of human glucocerebrosidase cDNAO Reiner, S Wilder, D Givol, et al.Blood Cells, Molecules & Diseases|August 22, 2000
A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutationE Beutler, T GelbartHuman Mutation|January 1, 1994
Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletionE Beutler, T GelbartThe Journal of Laboratory and Clinical Medicine|May 1, 1985
Plasma glutathione in health and in patients with malignant diseaseE Beutler, T GelbartGenetic Testing|August 23, 2000
Large-scale screening for HFE mutations: methodology and costE Beutler, T GelbartBritish Journal of Haematology|October 1, 1993
Gaucher disease mutations in non-Jewish patientsE Beutler, T GelbartClinica Chimica Acta; International Journal of Clinical Chemistry|July 15, 1986
Improved assay of the enzymes of glutathione synthesis: gamma-glutamylcysteine synthetase and glutathione synthetaseE Beutler, T GelbartPageof 234