Article
Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa.
Experimental eye research - 1 Aug 1997
Yamamoto S, Khani S C, Berson E L, Dryja T P
Abstract excerpt
We explored the possibility that defects in the rhodopsin kinase gene might cause retinitis pigmentosa (RP) by evaluating 160 unrelated cases with dominant RP and 151 unrelated cases with recessive RP. One of five missense changes was discovered in each of six cases of dominant RP, but none of the missense changes cosegregated with disease among relatives. Heterozygous missense changes were found in two cases of...
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