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Article

CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.

Molecular biology reports - 1 Jun 2018

Ibrahim Shahnaz, Maqbool Saadia, Azam Maleeha, Iqbal Mohammad Perwaiz, Qamar Raheel

Abstract excerpt

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 fragment length polymorphism. Sanger sequencing was performed for CBS exonic sequences along with...

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Source

Identifiers

PMID: 29600437
DOI: 10.1007/s11033-018-4169-9

Genes

CBS
MTHFR

Variants

rs1801133
rs1801133

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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