Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
Cotter P.D.; May A.; Li L.; Al-Sabah A.I.; Fitzsimons E.J.; Cazzola M.; Bishop D.F.;
Cited for: VARIANTS SIDBA1 HIS-199; CYS-411; GLN-448 AND CYS-452;
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.
Kucerova J.; Horvathova M.; Mojzikova R.; Belohlavkova P.; Cermak J.; Divoky V.;
Acta Haematol. 125:193-197(2011)
Cited for: VARIANTS SIDBA1 GLU-156; CYS-452 AND HIS-452; CHARACTERIZATION OF VARIANT SIDBA1 GLU-156;
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