Open AccessNovel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype–Phenotype Correlation
Author(s) -
Mariana Vallim Salles,
Fabiana Louise Motta,
Elton Dias da Silva,
Patrícia Varela,
Kárita Antunes Costa,
Rafael Filippelli-Silva,
Renan Paulo Martin,
John Chiang,
João Bosco Pesquero,
Juliana Maria Ferraz Sallum
Publication year - 2017
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.17-22398
Subject(s) - abca4 , stargardt disease , allele , proband , genetics , genotype , biology , phenotype , disease , gene , medicine , mutation
To analyze the presence of complex alleles of the ABCA4 gene in Brazilian patients with Stargardt disease and to assess the correlation with clinical features.
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