Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

BACKGROUND: X‐linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow. XLSA is caused by mutations in the erythroid‐specific gene coding 5‐aminolevulinate synthase (ALAS2). Anemia in XLSA is ex...

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Detalles Bibliográficos
Autores principales: Méndez, Manuel, Moreno‐Carralero, María‐Isabel, Morado‐Arias, Marta, Fernández‐Jiménez, María‐Cristina, de la Iglesia Iñigo, Silvia, Morán‐Jiménez, María‐José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867561/
https://www.ncbi.nlm.nih.gov/pubmed/27247955
http://dx.doi.org/10.1002/mgg3.202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867561/
https://www.ncbi.nlm.nih.gov/pubmed/27247955
http://dx.doi.org/10.1002/mgg3.202

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