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Characterization of the promoter region of TCblR/CD320 gene, the receptor for cellular uptake of transcobalamin-bound cobalamin

โœ Scribed by Wenxia Jiang; Jeffrey M. Sequeira; Yasumi Nakayama; Shao-Chiang Lai; Edward V. Quadros

Book ID
116508367
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
884 KB
Volume
466
Category
Article
ISSN
0378-1119

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Positive newborn screen for methylmaloni
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โœ Edward V. Quadros; Shao-Chiang Lai; Yasumi Nakayama; Jeffrey M. Sequeira; Lucian ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 290 KB

Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed decreased uptake of transcobalamin-bound cobalamin (holo-TC), suggested a defect in the cellular uptake of cobalamin. Analysis of TCblR/CD320, the gene for the receptor for cellular uptake of holo-TC, identified a hom