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

Michaelides M, Chen LL, Brantley MA, Andorf JL, Isaak EM, Jenkins SA, Holder GE, Bird AC, Stone EM, Webster AR
Br J Ophthalmol. 2007 91 (12): 1650-5

PMID: 18024811 · PMCID: PMC2095527 · DOI:10.1136/bjo.2007.118356

MeSH Terms (21)

Adolescent Adult Aged Alanine Alleles ATP-Binding Cassette Transporters Cohort Studies Female Glutamic Acid Glycine Humans Macula Lutea Male Middle Aged Mutation Mutation, Missense Pedigree Phenotype Retinal Diseases Siblings Valine

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