No abstract available
MeSH terms
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5-Aminolevulinate Synthetase / chemistry
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5-Aminolevulinate Synthetase / genetics*
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Adult
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Anemia, Sideroblastic / complications
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Anemia, Sideroblastic / genetics*
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Bone Marrow / pathology
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Cell Survival
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Erythroblasts / pathology
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Exome Sequencing
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Exons / genetics
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Female
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Genes, X-Linked / genetics
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Genetic Diseases, X-Linked / genetics*
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Heterozygote
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Humans
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Iron Overload / diagnostic imaging
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Iron Overload / etiology
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Magnetic Resonance Imaging
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Models, Molecular
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Mutation, Missense*
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Point Mutation*
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Protein Conformation
Substances
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5-Aminolevulinate Synthetase
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ALAS2 protein, human