Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

X-linked sideroblastic anemia (XLSA) is caused by mutations of the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) resulting in deficient heme synthesis. The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life. Hematologic respon...

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Detalhes bibliográficos

Publicado no:	J Clin Invest
Principais autores:	Cotter, P D, May, A, Fitzsimons, E J, Houston, T, Woodcock, B E, al-Sabah, A I, Wong, L, Bishop, D F
Formato:	Artigo
Idioma:	Inglês
Publicado em:	American Society for Clinical Investigation 1995
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC185849/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7560104/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118258
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