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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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Fagundes Verch, Juliana Maria, dos Santos, Bruna Bento, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2020
Matèries:
Short Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7576508/
https://ncbi.nlm.nih.gov/pubmed/33101979
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100659
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