Article
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.
The British journal of ophthalmology - 1 Jul 2011
Naz Shagufta, Ali Shahbaz, Riazuddin S Amer, Farooq Tahir, Butt Nadeem H, Zafar Ahmad U, Khan Shaheen N, Husnain Tayyab, Macdonald Ian M, Sieving Paul A, Hejtmancik J Fielding, Riazuddin Sheikh
Abstract excerpt
OBJECTIVE: To identify disease-causing mutations in two consanguineous Pakistani families with fundus albipunctatus. METHODS: Affected individuals in both families underwent a thorough clinical examination including funduscopy and electroretinography. Blood samples were collected from all participating members and genomic DNA was extracted. Exclusion analysis was completed with microsatellite short tandem repeat...
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