Article
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
Molecular vision - 29 Apr 2010
Azam Maleeha, Collin Rob W J, Shah Syed Tahir Abbas, Shah Aftab Ali, Khan Muhammad Imran, Hussain Alamdar, Sadeque Ahmed, Strom Tim M, Thiadens Alberta A H J, Roosing Susanne, den Hollander Anneke I, Cremers Frans P M, Qamar Raheel
Abstract excerpt
PURPOSE: To identify the genetic defect in two Pakistani families with autosomal recessive achromatopsia. METHODS: Two families (RP26 and RP44) were originally diagnosed with retinal dystrophy based upon their medical history. To localize the causative genes in these families, homozygosity mapping was performed using Affymetrix 10K single nucleotide polymorphism (SNP) arrays. Sequence analysis was used to find...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.