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.

Samankaltaisia teoksia

• Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
  Tekijä: Cotter, P D, et al.
  Julkaistu: (1992)
• Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
  Tekijä: Jardine, P E, et al.
  Julkaistu: (1994)
• Ring sideroblasts and sideroblastic anemias
  Tekijä: Cazzola, Mario, et al.
  Julkaistu: (2011)
• Sideroblastic anemia: functional study of two novel missense mutations in ALAS2
  Tekijä: Méndez, Manuel, et al.
  Julkaistu: (2016)
• Refractory anemia with ring sideroblasts and thrombocytosis
  Tekijä: Pradhan, Sarita
  Julkaistu: (2017)