Article
Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis.
Human mutation - 1 Jan 1992
Riess O, Weber B, Noeremolle A, Shaikh R A, Hayden M R, Musarella M A
Abstract excerpt
The phenotype in the rd mouse is similar to the clinical presentation of Leber congenital amaurosis (LCA) in humans. Recently a nonsense mutation in the beta subunit of the cGMP phosphodiesterase (Pdeb) gene has been defined as the cause for the rd phenotype in the mouse and has raised the question as to whether mutations in the human PDEB gene might cause LCA. We have previously cloned and characterized the...
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