Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

Lignende værker

• Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
  af: Beltrán-Valero de Bernabé, D, et al.
  Udgivet: (1998)
• Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
  af: Beltrán-Valero de Bernabé, D, et al.
  Udgivet: (1999)
• Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
  af: Felbor, U., et al.
  Udgivet: (1999)
• Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria
  af: ZATKOVA, A, et al.
  Udgivet: (2000)
• Homogentisate 1,2 Dioxygenase is Expressed in Human Osteoarticular Cells: Implications in Alkaptonuria
  af: Laschi, Marcella, et al.
  Udgivet: (2012)