Browsing by Author "Roberts, Lisa"

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A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora

Author: Roberts, Lisa ; George, Siddiqah ; Greenberg, Jacquie ; Ramesar, Raj Date: Oct 2015 PURPOSE. Research over the past 25 years at the University of Cape Town has led to the identification of causative mutations in 17% of the 1416 families in the Retinal Degenerative Diseases (RDD) biorepository in South Africa. A low rate of ... Read more
Genetics of age-related macular degeneration and Stargardt disease in South African populations

Author: Baard, Johannes Date: 2016 Background: The Retinal Degenerative Diseases (RDD) Research Group in the Division of Human Genetics at UCT has for the past 25 years been intensively investigating a range of RDD phenotypes. Two points of particular note have emerged regarding ... Read more
A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing

Author: Korir, Paul K ; Roberts, Lisa ; Ramesar, Raj ; Seoighe, Cathal Date: 27 Jun 2014 Background: Substantial progress has been made in the identification of sequence elements that control mRNA splicing and the genetic variants in these elements that alter mRNA splicing (referred to as splicing quantitative trait loci – sQTLs). ... Read more c b

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