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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Detalles Bibliográficos
Autores principales: Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Fagundes Verch, Juliana Maria, dos Santos, Bruna Bento, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576508/
https://www.ncbi.nlm.nih.gov/pubmed/33101979
http://dx.doi.org/10.1016/j.ymgmr.2020.100659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576508/
https://www.ncbi.nlm.nih.gov/pubmed/33101979
http://dx.doi.org/10.1016/j.ymgmr.2020.100659

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