Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
Abstract Background A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique phenotype characteristics for PGM3 deficiency. PGM3 encodes a carbohydrate-modifying enzyme, phosphoglucomutase 3. Null-...
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Main Authors: | , , , , , , , , , |
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Format: | Book |
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BMC,
2018-08-01T00:00:00Z.
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A1234.567 |
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Copy 1 | Available |