Association of selected genetic variants in

HIGHLIGHTS

  • who: Nadeesha Samarasinghe from the with in Sri Lanka have published the research work: Association of selected genetic variants in, in the Journal: (JOURNAL)
  • what: This study was designed to detect the selected variants in CBS and MTHFR genes associated with homocystinuria in a cohort of children in Sri Lanka. According to the analysis of this study on MTHFR gene variants, seven samples showed heterozygous mutant status for c.1286A>C, while one patient had the heterozygous mutant for c.665C>T condition. The aim of treatment for homocystinuria is to reduce plasma homocysteine levels . . .

     

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