A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia
'
A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia' 의 주제별 논문영향력
| 주제 |
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|---|---|---|
| 동일주제 총논문수 | 논문피인용 총횟수 | 주제별 논문영향력의 평균 |
| 7,576 | 0 |
0.0% |
주제별 논문영향력
' A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia' 의 참고문헌
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유전성 철적아구성 빈혈 1예
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The quantitative estimation of total iron stores in human bone marrow
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The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia
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Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations
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Recent advances in the understanding of inherited sideroblastic anaemia
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Pyridoxine responsive sideroblastic anemia in a boy with mitral valve prolapse
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Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis
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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
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Late-onset X-linked sideroblastic anemia following hemodialysis
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Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females
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Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans
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Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation
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ALAS2 유전자의 반접합 R170H 돌연변이에 의한 성염색체 열성유전 철적모구빈혈 1예
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5-Aminolevulinic acid synthase: mechanism, mutations and medicine