Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa
- 1 August 1999
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 22 (6) , 762-763
- https://doi.org/10.1023/a:1005572906807
Abstract
No abstract availableThis publication has 2 references indexed in Scilit:
- Human Glycogen Debranching Enzyme Gene (AGL): Complete Structural Organization and Characterization of the 5′ Flanking RegionGenomics, 1996
- Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.Journal of Clinical Investigation, 1996