Article
Molecular diagnostics for retinitis pigmentosa.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2001
Yeung K Y, Baum L, Chan W M, Lam D S, Kwok A K, Pang C P
Abstract excerpt
BACKGROUND: At least 1 million people worldwide have retinitis pigmentosa (RP), making it relatively common among the inherited forms of blindness. Mutations in many genes may cause RP. The most common known mutation, Pro347Leu in rhodopsin, is found in no more than about 1% of unrelated patients, implying the impracticality of a diagnostic test which would screen only for a few, common mutation sites....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.