Article
Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
Human mutation - 1 Jan 1999
Ko T M, Hwu W L, Lin Y W, Tseng L H, Hwa H L, Wang T R, Chuang S M
Abstract excerpt
Pompe disease is caused by mutations in the acid alpha-glucosidase (GAA) gene. Multiple kinds of mutations in the GAA gene have been reported worldwide. In order to elucidate the molecular basis of the disease in Taiwanese patients of Chinese origin, we have recruited 11 unrelated families who had at least one member with Pompe disease for study. We used 16 pairs of oligonucleotide primers to amplify all the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.