Concepedia

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

George Hadjigeorgiou, Giacomo P. Comi, Andreina Bordoni, Jianjun Shen, Sabrina Salani, António Toscano, Francesco Fortunato, Sabrina Lucchiari, Nereo Bresolin, Carmelo Rodolico,

Journal of Inherited Metabolic Disease · 1999 · 16 citations · 2 references

Concepts

Life SciencesGeneticsMolecular GeneticsGenomicsMedical GeneticsGenetic DisordersGlycogen MetabolismRare Disease GeneticsRare Disease GenomicsCongenital Disorders Of GlycosylationDisease-associated SplicingDisease-associated Splicing DefectsGlycogen Storage DiseasesSplice Site Variant InterpretationSplice-site MutationsSplicing Mutations

References

2

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.

Jianjun Shen, Yizhong Bao, H.M. Liu et al. · Journal of Clinical Investigation · 1996 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Human Glycogen Debranching Enzyme Gene (AGL): Complete Structural Organization and Characterization of the 5′ Flanking Region

Yong Bao, Thomas L. Dawson, Yuan-Tsong Chen · Genomics · 1996 · 92 citations

Life Sciences, Genetics, Molecular Biology +9