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...

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Detalles Bibliográficos
Autores principales: Tchaikovskii, Vassili, Desnick, Robert J., Bishop, David F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
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

Internet

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

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