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CBL B

National Institutes of Health

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Conditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomNewborn conditions with equivocal markers:Prid:Pt:Bld.dot:NomNewborn conditions with positive markers:Prid:Pt:Bld.dot:NomOrganic acidemia conditions suspected:Prid:Pt:Bld.dot:Nom

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1975
1975
Absence of an intracellular cobalamin-binding protein in cultured fibroblasts from patients with defective synthesis of 5'-deoxyadenosylcobalamin and methylcobalamin.
Three distinct classes of human mutations (cbl A, cbl B, and cbl C) cause defective synthesis of cobalamin (Cbl; vitamin B(12… 
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