A novel missense mutation of the GRK1 gene in Oguchi disease
نویسندگان
چکیده
منابع مشابه
A novel missense mutation of the GRK1 gene in Oguchi disease
Oguchi disease is a rare form of congenital stationary night blindness with an autosomal recessive inheritance pattern. The presence of S‑antigen (SAG) and G‑protein‑dependent receptor kinase 1 (GRK1) mutations were investigated in the family members with Oguchi disease. All exons of the SAG and GRK1 genes were amplified by polymerase chain reaction and sequenced. The patients were shown to hav...
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PURPOSE The purpose of this study was to identify the underlying molecular genetic defect in a large consanguineous Pakistani family with Oguchi disease who had been given a diagnosis of autosomal recessive retinitis pigmentosa. METHODS The family was genotyped with the Affymetrix 10K single nucleotide polymorphism array. Fine-mapping of a common homozygous region on chromosome 13q was perfor...
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ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2016
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2016.5620