Doubly bi-allelic variants of MTHFR and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy

Background: Hyperhomocysteinemia (HHcy) is a risk factor for thromboembolic disease. Defects in one-carbon metabolism (1-CM)-related genes, such as methylenetetrahydrofolate reductase (MTHFR), methylenetetrahydrofolate dehydrogenase, cyclohydrolase, and formyltetrahydrofolate synthetase 1 (MTHFD1),...

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Detalles Bibliográficos
Autores principales: Liu, Yu-Xing, Ding, Man-Hua, Sheng, Yue, Sun, Meng-Fei, Liu, Lv, Zhang, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845700/
https://www.ncbi.nlm.nih.gov/pubmed/36685872
http://dx.doi.org/10.3389/fgene.2022.964990

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845700/
https://www.ncbi.nlm.nih.gov/pubmed/36685872
http://dx.doi.org/10.3389/fgene.2022.964990

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