DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome

Autor: Gustavo Henrique Marucci, Renato Haddad, Eny Maria Goloni-Bertollo, Luciana Dutra Oliveira, Marcos N. Eberlin, Hélio Vannucchi, Joice Matos Biselli, Cristiani Cortez Mendes, Érika Cristina Pavarino, Valdemir Melechco Carvalho, Maria Francesca Riccio, Aline Maria Zanchetta de Aquino Raimundo, Bruna Lancia Zampieri

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Background: Down syndrome (DS) results from the presence and expression of three copies of the genes located on chromosome 21. Studies have shown that, in addition to overexpression of the Cystathionine β-synthase (CBS) gene, polymorphisms in genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d2815f2a5fbfbd01318d8f76c88abb8
https://pubmed.ncbi.nlm.nih.gov/23421317