Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report
Abstract Background Transcobalamin (TC) transports vitamin B12 from blood into cells. TC II deficiency is a rare autosomal recessive disorder. It is characterized by failure to thrive, diarrhoea, pallor, anaemia, pancytopenia or agammaglobulinemia. It is usually confirmed by molecular analysis of th...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2020-10-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |