Article
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Human mutation - 1 Jan 1993
al-Maghtheh M, Gregory C, Inglehearn C, Hardcastle A, Bhattacharya S
Abstract excerpt
Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin....
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