Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.

Abstract excerpt

Gaucher disease (GD) is an autosomal recessive, lysosomal disorder caused by mutations in the gene for the β-glucocerebrosidase (GBA) enzyme. Presence of the non-functional GBAP pseudogene, which shares high sequence similarity with the functional GBA gene, has made it difficult to carry out molecular analyses of GD, especially recombinant mutations. Using a long-range PCR approach that has been skillfully...

Topics

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

• Share to Asian People
• Share to Child, Preschool