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.

Схожие документы

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