Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

Eitemau Tebyg

• Reevaluating the Association of Sex With ABCA4 Alleles in Patients With Stargardt Disease
  gan: Lee, Winston, et al.
  Cyhoeddwyd: (2021)
• CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION
  gan: COLLISON, FREDERICK T., et al.
  Cyhoeddwyd: (2019)
• Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease
  gan: Lee, Winston, et al.
  Cyhoeddwyd: (2021)
• G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull’s eye maculopathy
  gan: Cella, Wener, et al.
  Cyhoeddwyd: (2009)
• Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration
  gan: Molday, Laurie L, et al.
  Cyhoeddwyd: (2018)