Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants
Abstract Background X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2). Five ALAS2 exon 11 variants identified by...
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| Main Authors: | , , |
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| Format: | Book |
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BMC,
2019-01-01T00:00:00Z.
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