Associated Papers
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
Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Trakadis YJ et al.
Journal of Inherited Metabolic Disease, 2014
Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents.
Nissen PH et al.
Journal of Inherited Metabolic Disease, 2010
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