Ontology highlight
ABSTRACT:
SUBMITTER: Pinheiro FC
PROVIDER: S-EPMC7576508 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Molecular genetics and metabolism reports 20201020
The rs2229611 SNP (<i>G6PC</i>:c.*23T>C) in the 3'UTR region of the <i>G6PC</i> gene affects the stability of the glucose-6-phosphatase mRNA and occurs in a higher frequency in patients with glycogenosis Ia (GSD Ia) in some populations. Herein, a group of Brazilian patients (<i>n</i> = 116) was analyzed by NGS and the frequency of rs2229611:T>C was determined. The linkage disequilibrium (LD) between pathogenic variants and the rs2229611:T>C SNP was evaluated. The results showed that the rs222961 ...[more]