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

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

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 th...

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Bibliographic Details
Main Authors: Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Juliana Maria Fagundes Verch, Bruna Bento dos Santos, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Glycogenosis
GSD Ia
Linkage-disequilibrium
Inborn error of metabolism
Genetic biomarker
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301051

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http://www.sciencedirect.com/science/article/pii/S2214426920301051

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