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The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.
Pinheiro, Franciele Cabral; Sperb-Ludwig, Fernanda; Fagundes Verch, Juliana Maria; Dos Santos, Bruna Bento; de Souza, Carolina Fischinger Moura; Schwartz, Ida Vanessa Doederlein.
Afiliação
  • Pinheiro FC; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
  • Sperb-Ludwig F; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
  • Fagundes Verch JM; Universidade Federal do Pampa (UNIPAMPA), Itaqui, RS, Brazil.
  • Dos Santos BB; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
  • de Souza CFM; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
  • Schwartz IVD; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
Mol Genet Metab Rep ; 25: 100659, 2020 Dec.
Article em En | MEDLINE | ID: mdl-33101979
The rs2229611 SNP (G6PC:c.*23T>C) in the 3'UTR region of the G6PC 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 (n = 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 rs2229611:T>C is associated to GSD Ia and is in LD with the most frequent pathogenic variants in Brazilian patients with GSD Ia.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies País/Região como assunto: America do sul / Brasil Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies País/Região como assunto: America do sul / Brasil Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos