Article
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
European journal of human genetics : EJHG - 1 Feb 2011
Arrigoni Francesca I, Matarin Mar, Thompson Pamela J, Michaelides Michel, McClements Michelle E, Redmond Elizabeth, Clarke Lindsey, Ellins Elizabeth, Mohamed Saifullah, Pavord Ian, Klein Nigel, Hunt David M, Moore Anthony T, Halcox Julian, Sisodiya Sanjay M
Abstract excerpt
Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in hippocampal neurogenesis, we examined two kindreds with the same R373C PROM1 missense mutation using our established paradigm to study brain structure and function. As the protein encoded by PROM1, known as CD133, is used to identify...
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