Glucocerebrosidase mutations among chinese neuronopathic and non-neuronopathic Gaucher disease patients
- 11 June 1999
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 84 (5) , 484-486
- https://doi.org/10.1002/(sici)1096-8628(19990611)84:5<484::aid-ajmg14>3.0.co;2-w
Abstract
No abstract availableThis publication has 15 references indexed in Scilit:
- A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher DiseaseBlood Cells, Molecules, and Diseases, 1998
- Hematologically Important Mutations: Gaucher DiseaseBlood Cells, Molecules, and Diseases, 1998
- Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.Journal of Clinical Investigation, 1997
- Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutationsJournal of Inherited Metabolic Disease, 1997
- Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patientAmerican Journal of Medical Genetics, 1997
- Mutation screening of 17 Japanese patients with neuropathic Gaucher diseaseHuman Genetics, 1996
- Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populationsHuman Mutation, 1996
- DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descentAmerican Journal of Medical Genetics, 1994
- The human glucocerebrosidase gene and pseudogene: Structure and evolutionGenomics, 1989
- Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's diseaseBiochemical and Biophysical Research Communications, 1965