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

• Main Authors: Mohand-Saïd Saddek (Author), Bujakowska Kinga (Author), Audo Isabelle (Author), Lancelot Marie-Elise (Author), Moskova-Doumanova Veselina (Author), Waseem Naushin H (Author), Antonio Aline (Author), Sahel José-Alain (Author), Bhattacharya Shomi S (Author), Zeitz Christina (Author)
• Format: Book
• Published: BMC, 2010-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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-link...