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Article

Cystathionine β-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children

1 Dec 2005

Abstract excerpt

BACKGROUND: Cystathionine beta-synthase (CBS) mediates conversion of homocysteine to cystathionine and deficiency in enzyme activity may lead to hyperhomocysteinemia/homocystinuria, which are often associated with mental retardation (MR). A large number of polymorphisms have been reported in the CBS gene, some of which impair its activity and among these, a T833C polymorphism in cis with a 68 bp insertion at 844...

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PMID: 16375773
DOI: 10.1186/1744-9081-1-25

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