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Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants
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 the NHBL...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344999/ https://www.ncbi.nlm.nih.gov/pubmed/30678654 http://dx.doi.org/10.1186/s10020-019-0070-9 |