CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children
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DOI: 10.1007/s11033-018-4169-9
Abstract: Three index patients with hyperhomocysteinemia and ocular anomalies were screened for cystathionine beta synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms. Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction… read more here.
Keywords: mthfr polymorphisms; cbs mutations; mtfhr snps; mutations mtfhr ... See more keywords