Gaucher disease: studies of phenotype, molecular diagnosis and treatment.

Abstract excerpt

This report summarizes the results on 39 patients with Gaucher disease who have been genotyped, evaluated, and/or followed at this center. Mutation analysis for 4 common mutations; N370S, L444P, 84gg and IVS2 (+1), was performed for all patients. Mutation analysis identified both mutant alleles in 69% and at least one mutant allele in 90% of all chromosomes. This study group of 39 patients included 32 type 1,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Aged
• Share to Child