TY - JOUR AU - Dutta, Samikshan AU - Sinha, Swagata AU - Chattopadhyay, Anindita AU - Gangopadhyay, Prasanta Kumar AU - Mukhopadhyay, Jotideb AU - Singh, Manoranjan AU - Mukhopadhyay, Kanchan PY - 2005 DA - 2005/12/26 TI - Cystathionine β-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children JO - Behavioral and Brain Functions SP - 25 VL - 1 IS - 1 AB - Cystathionine β-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 in the exon 8 is found to be associated with mild hyperhomocysteinemia in different ethnic groups. SN - 1744-9081 UR - https://doi.org/10.1186/1744-9081-1-25 DO - 10.1186/1744-9081-1-25 ID - Dutta2005 ER -