Article
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
American journal of medical genetics - 27 Jun 1997
Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A
Abstract excerpt
Gaucher disease (GD) is a lysosomal storage disorder resulting from impaired activity of lysosomal beta-glucocerebrosidase. More than 60 mutations have been described in the GBA gene. They have been classified as lethal, severe, and mild on the basis of the corresponding phenotype. The fact that most GD patients are compound heterozygous and that most type 1 patients bear the N370S allele, which by itself causes...
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