Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka

Abstract Background Homocystinuria is an inherited, inborn error of homocysteine metabolism, which leads to the abnormal accumulation of homocysteine and its metabolites in blood and urine, resulting in various complications. Variants in the cystathionine β-synthase (CBS) and methylenetetrahydrofola...

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Bibliographic Details
Main Authors: Nadeesha Samarasinghe, Dinithi Mahaliyanage, Sumadee De Silva, Eresha Jasinge, Nimal Punyasiri, H. W. Dilanthi
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Journal of Genetic Engineering and Biotechnology
Subjects:
Online Access:https://doi.org/10.1186/s43141-022-00449-7