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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Hlavní autoři: Cotter, P D, May, A, Fitzsimons, E J, Houston, T, Woodcock, B E, al-Sabah, A I, Wong, L, Bishop, D F
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC185849/
https://ncbi.nlm.nih.gov/pubmed/7560104
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