Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

• Main Authors: Antiñolo Guillermo (Author), Ayuso Carmen (Author), García-Sandoval Blanca (Author), Maseras Miquel (Author), Martínez-Gimeno María (Author), Hernan Imma (Author), Gamundi María (Author), Baiget Montserrat (Author), Carballo Miguel (Author)
• Format: Book
• Published: BMC, 2006-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specif...