Associated Papers
Vitamin B12 binding to mutated human transcobalamin, in-silico study of TCN2 alanine scanning and ClinVar missense mutations/SNPs.
Abuyaman O et al.
Journal of Biomolecular Structure & Dynamics, 2023
Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency.
Luo J et al.
Frontiers in Genetics, 2022
Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.
Zhan S et al.
Bmc Pediatrics, 2020
Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.
Goffinet L et al.
Journal of Medical Genetics, 2016
Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay.
Sobczyńska-Malefora A et al.
European Journal of Clinical Investigation, 2016
Polymorphisms in transcobalamin II gene is associated with coronary artery disease in Indian population.
Garg G et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2012
Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk.
Hsu FC et al.
Neurology, 2011
A single nucleotide polymorphism in transcobalamin II (I5V) induces structural changes in the protein as revealed by molecular modeling studies.
Silla Y et al.
Biochemistry, 2011
Genetics of hyperhomocysteinaemia in cardiovascular disease.
Lievers KJ et al.
Annals of Clinical Biochemistry, 2003
Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients.
Lievers KJ et al.
Clinical Chemistry, 2002
Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects.
Afman LA et al.
European Journal of Human Genetics : Ejhg, 2002
Select a paper to view details