Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation
نویسندگان
چکیده
منابع مشابه
Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation
PURPOSE To describe the complex, overlapping phenotype expressed in a two generation family harboring pathogenic mutations in the ABCA4 and GPR143 genes. METHODS Clinical evaluation of a two generation family included quantitative autofluorescence imaging (qAF, 488-nm excitation) using a modified confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account...
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PURPOSE To resolve the spectrum of causative retina-specific ATP-binding cassette transporter gene (ABCA4) gene mutations in Portuguese Stargardt (STGD) patients and compare allele frequencies obtained in this cohort with those of previous population surveys. METHODS Using a microarray technique (ABCR400 gene chip), we screened all previously reported ABCA4 gene mutations in the genomic DNA o...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2016
ISSN: 1552-5783
DOI: 10.1167/iovs.16-19621