The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients-Reference-Cited by-同舟云学术

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

Published:2020-12 Issue: Volume:25 Page:100659
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Pinheiro Franciele Cabral,Sperb-Ludwig Fernanda,Fagundes Verch Juliana Maria,dos Santos Bruna Bento,de Souza Carolina Fischinger Moura,Schwartz Ida Vanessa Doederlein

Funder

FIPE-HCPA

CAPES

CNPq

Post-Graduation Program of Genetics and Molecular Biology-UFRGS

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference16 articles.

1. Glycogen storage diseases: diagnosis, treatment and outcome;Chen;Transl. Sci. Rare Dis.,2016

2. The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies;Stenson;Hum. Genet.,2017

3. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation;Matern;Eur. J. Pediatr.,2002

4. Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA : the added value of CUSUM for metabolic control;Peeks;J. Inherit. Metab. Dis.,2017

5. 3′-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and glycogen storage disease type-Ia risk;Karthi;Clin. Chim. Acta.,2017

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