Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

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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Bibliographic Details
Main Authors: Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Molecular Medicine
Subjects:
X-linked sideroblastic anemia
Porphyria
Erythropoietic
Polymorphism
Single nucleotide
Glycine; succinyl-coenzyme a
Online Access:http://link.springer.com/article/10.1186/s10020-019-0070-9

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http://link.springer.com/article/10.1186/s10020-019-0070-9

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