Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

@inproceedings{Audo2010PrevalenceAN,
  title={Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports},
  author={Isabelle Audo and Kinga M. Bujakowska and Saddek Mohand-Sa{\"i}d and Marie-Elise Lancelot and Veselina Moskova-Doumanova and Naushin H. Waseem and Aline Antonio and Jos{\'e}-Alain Sahel and Shomi Shanker Bhattacharya and Christina Zeitz},
  booktitle={BMC Medical Genetics},
  year={2010}
}
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 correlations of those patients, to determine the prevalence of PRPF31 mutations in this cohort and to… CONTINUE READING

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