Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria

Gelijkaardige items

• High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots
  door: Zatková, Andrea, et al.
  Gepubliceerd in: (2000)
• Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database
  door: Zatkova, Andrea, et al.
  Gepubliceerd in: (2011)
• Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
  door: Felbor, U., et al.
  Gepubliceerd in: (1999)
• Homogentisate 1,2 Dioxygenase is Expressed in Human Osteoarticular Cells: Implications in Alkaptonuria
  door: Laschi, Marcella, et al.
  Gepubliceerd in: (2012)
• Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene
  door: PORFIRIO, B., et al.
  Gepubliceerd in: (2000)