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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| Published in: | J Clin Invest |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
American Society for Clinical Investigation
1995
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| Subjects: | |
| Online Access: | 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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