
PMC . NCBI . NLM . NIH . GOV {
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Title:
The molecular genetics of sideroblastic anemia - PMC
Description:
The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of erythroid precursors. Like most hematological diseases, the molecular genetic basis of the ...
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27 years and 8 months (reg. 1997-10-02).
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Keywords {π}
pubmed, google, scholar, doi, mitochondrial, anemia, mutations, pmc, sideroblastic, article, free, blood, patients, csa, iron, protein, gene, sideroblasts, mutation, acquired, ring, heme, synthesis, xlinked, severe, lactic, acidosis, genes, alas, myopathy, genet, missense, proteins, mdsrs, syndrome, synthase, mitochondria, erythroid, clonal, pathways, mild, abcb, isc, deficiency, xlsa, congenital, cases, slca, sfb, anaemia,
Topics {βοΈ}
familial-skewed x-chromosome inactivation hemopoietic-specific sf3b1-k700e knock erythroid-specific delta-aminolevulinate synthase mds-rs-sld/mds-rs-mld skewed x-chromosome inactivation solid-state genotyping technologies c-terminal inhibitory domain high-affinity thiamine transport tumor necrosis factor-Ξ± c-terminal heat domains mitochondrial tyrosyl-trna synthetase x-linked dominant protoporphyria x-linked protoporphyria disrupt pmc beta search mitochondrial leucyl-trna synthetase [published online ahead late-onset retinitis pigmentosa thiamine-responsive megaloblastic anaemia x-linked sideroblastic anaemia thiamine-responsive megaloblastic anemia x-linked sideroblastic anemia clear genotype-phenotype relationship iron-sulfur cluster biogenesis pyridoxal-binding amino acid high-level erythroid expression iron-staining erythrocytic inclusions pearson marrow-pancreas syndrome ire-binding protein irp2 mitochondrial aminoacyl-trna synthetases 4fe-4s isc assembly noncoding single-nucleotide polymorphism single-stranded rna viruses nascent 2fe-2s isc erythroid-specific 5-aminolevulinate synthase acquired x-chromosome skewing small-molecule splicing modulator x-linked cerebellar ataxia ns/fs/spl/ms spl/ms/ns/fs ms/fs/ns/spl ms/fs/ns/ spl progressive b-cell immunodeficiency pathological mds/mpn overlap microcytic x-linked csa hepatic/renal failure ββmlasa1 mitochondrial isc-dependent enzyme cytosolic isc-dependent proteins aseptic febrile episodes myelodysplastic syndrome/myeloproliferative neoplasm age-related clonal hematopoiesis
Questions {β}
- Are they a cause or consequence of disordered metabolism?
- X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?
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