Hypothesis

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Feb 2026
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy

1
1. adriscoll11 09 Feb 2026
  
  in Public
  
  To determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull's‐eye maculopathy (BEM).
  
  Phenotype: Bull's-eye maculopathy characterized by a central area of retinal pigment.
  
  Phenotype Bull'seye_maculopathy
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Phenotype Bull'seye_maculopathy

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adriscoll11

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pmc.ncbi.nlm.nih.gov/articles/PMC2095527/