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.

Παρόμοια τεκμήρια

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