Condition: Glycogen Storage Disease IIIA
rs193186112 in
AGL gene and
Glycogen Storage Disease IIIA
PMID 20648714 2010 Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
PMID 12442284 2002 Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
PMID 26913919 2016 Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
PMID 16705713 2006 Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
PMID 8990006 1997 A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
PMID 23430490 2013 Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.
PMID 23062577 2012 Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.
PMID 22035446 2012 A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
PMID 23507172 2013 Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?
PMID 27460348 2016 Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.