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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2022-12-01
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Series: | Journal of Genetic Engineering and Biotechnology |
Subjects: | |
Online Access: | https://doi.org/10.1186/s43141-022-00449-7 |