Ana Priscila Soggia Maria Lúcia Correa-Giannella Maria Angela Henriques Fortes Ana Mercedes Cavaleiro Luna Maria Adelaide Albergaria Pereira
10.1186/1471-2350-11-3
BMC Med Genet
2010 Jan 5;11:3.
CC BY
https://pubmed.ncbi.nlm.nih.gov/20051115/
Codon, Nonsense Frameshift Mutation Glycogen Storage Disease / genetics Glycogen Synthase / genetics
Codon, Nonsense Frameshift Mutation Glycogen Storage Disease / genetics Glycogen Synthase / genetics Case Reports Base Sequence Blood Glucose / analysis Child Exons Fasting Female Glycogen Storage Disease / diagnosis Heterozygote Humans Insulin / analysis Introns Lactic Acid / analysis Phenotype Sequence Analysis, DNA Blood Glucose Codon, Nonsense Insulin Lactic Acid Glycogen Synthase
PMC2837020
20051115
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
2010