Clinical and molecular characteristics of patients with Gaucher disease in Southern China
- 1 February 2018
- journal article
- research article
- Published by Elsevier BV in Blood Cells, Molecules, and Diseases
- Vol. 68, 30-34
- https://doi.org/10.1016/j.bcmd.2016.10.026
Abstract
No abstract availableKeywords
Funding Information
- Guangdong Provincial Bureau of Science and Technology (2014A020212016)
This publication has 16 references indexed in Scilit:
- Clinical and genetic characteristics of Korean patients with Gaucher diseaseBlood Cells, Molecules, and Diseases, 2011
- Characterization of the ERAD process of the L444P mutant glucocerebrosidase variantBlood Cells, Molecules, and Diseases, 2011
- Gaucher Disease with Communicating Hydrocephalus and Cardiac InvolvementClinical Cardiology, 2010
- Clinical and genetic study of Japanese patients with type 3 Gaucher diseaseMolecular Genetics and Metabolism, 2009
- Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare allelesBlood Cells, Molecules, and Diseases, 2007
- Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutationsBlood Cells, Molecules, and Diseases, 2006
- Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)American Journal of Medical Genetics, 2002
- Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher DiseaseAmerican Journal of Human Genetics, 2000
- Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutationsHuman Genetics, 1995
- Gaucher disease mutations in non‐Jewish patientsBritish Journal of Haematology, 1993