Article
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
Human mutation - 1 Jul 2000
Kozák L, Francová H, Hrabincová E, Stastná S, Pesková K, Elleder M
Abstract excerpt
Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia). A study of the molecular basis of GSD Ia was carried out in 12 Czech and Slovak GSD Ia patients from 10 unrelated families. Mutation analysis was performed for the entire coding region of G6Pase gene using DGGE, sequencing and PCR/digestion. With the strategy used, all mutant alleles were identified...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.