Article
Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease.
Investigative ophthalmology & visual science - 1 Mar 1997
Parminder A H, Murakami A, Inana G, Berson E L, Dryja T P
Abstract excerpt
PURPOSE: To determine whether defects in the human recoverin gene cause retinitis pigmentosa (RP) or an allied disease such as Usher syndrome, Leber congenital amaurosis, or the Bardet-Biedl syndrome. METHODS: Single-strand conformation polymorphism analysis and direct genomic sequencing techniques were used to screen 596 unrelated patients, comprising 167 patients with dominant RP, 168 with recessive RP, and 261...
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