Article
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
BMC medical genetics - 12 Oct 2010
Audo Isabelle, Bujakowska Kinga, Mohand-Saïd Saddek, Lancelot Marie-Elise, Moskova-Doumanova Veselina, Waseem Naushin H, Antonio Aline, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christina
Abstract excerpt
BACKGROUND: Rod-cone dystrophies are heterogeneous group of inherited retinal disorders both clinically and genetically characterized by photoreceptor degeneration. The mode of inheritance can be autosomal dominant, autosomal recessive or X-linked. The purpose of this study was to identify mutations in one of the genes, PRPF31, in French patients with autosomal dominant RP, to perform genotype-phenotype...
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