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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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1995
Fag:
Research Article
Online adgang: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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