Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

Ähnliche Einträge

• Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
  von: Warner, C A, et al.
  Veröffentlicht: (1992)
• Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
  von: Xu, W, et al.
  Veröffentlicht: (1995)
• Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria
  von: Solis, Constanza, et al.
  Veröffentlicht: (2001)
• Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
  von: Clavero, Sonia, et al.
  Veröffentlicht: (2010)
• Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions
  von: Bishop, David F., et al.
  Veröffentlicht: (2006)