Article
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
Human mutation - 1 Apr 2011
Audo Isabelle, Lancelot Marie-Elise, Mohand-Saïd Saddek, Antonio Aline, Germain Aurore, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christina
Abstract excerpt
Autosomal-recessive retinitis pigmentosa (arRP) is a genetically heterogeneous group of disorders to which a novel gene, C2orf71, was recently associated. The purpose of our study was to establish the prevalence and nature of C2orf71 mutations in a clinically well-characterized cohort of 345 sporadic and arRP French cases. Direct sequencing of C2orf71 was performed in 209 subjects for whom mutations had...
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