The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

Παρόμοια τεκμήρια

• Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
  ανά: Maugeri, Alessandra, κ.ά.
  Έκδοση: (2000)
• Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene
  ανά: Klevering, B, κ.ά.
  Έκδοση: (1999)
• Central areolar choroidal dystrophy associated with dominantly inherited drusen
  ανά: Klevering, B Jeroen, κ.ά.
  Έκδοση: (2002)
• Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
  ανά: Lewis, R A, κ.ά.
  Έκδοση: (1999)
• Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D
  ανά: van Spaendonck-Zwarts, K. Y., κ.ά.
  Έκδοση: (2012)