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Article

The cloning and characterization of the human transcobalamin II gene

15 May 1995

Abstract excerpt

Transcobalamin II (TCII) is a plasma protein that binds vitamin B12 (cobalamin; Cbl) and facilitates the cellular uptake of the vitamin by receptor-mediated endocytosis. In genetic disorders that are characterized by congenital deficiency of TCII, intracellular Cbl deficiency occurs, resulting in an early onset of megaloblastic anemia that is sometimes accompanied by a neurologic disorder. To define the genetic...

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PMID: 7742531
DOI: 10.1182/blood.v85.10.2711.bloodjournal85102711

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