Article
Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients.
Human heredity - 1 Mar 1999
Kucinskas V, Payne A M, Ambrasiene D, Jurgelevicius V, Steponaviciūte D, Arciuliene J V, Daktaraviciene E, Bhattacharya S
Abstract excerpt
Lithuanian patients with visual problems were clinically examined for retinitis pigmentosa (RP). A total of 33 unrelated families with autosomal dominant RP (adRP) were identified. Screening for mutations in the rhodopsin (RHO) and peripherin/RDS (RDS) genes was performed using DNA heteroduplex analysis. Direct DNA sequencing in the cases of heteroduplex formation showed the presence of the following mutations...
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