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

• Главные авторы: Antiñolo Guillermo (Автор), Ayuso Carmen (Автор), García-Sandoval Blanca (Автор), Maseras Miquel (Автор), Martínez-Gimeno María (Автор), Hernan Imma (Автор), Gamundi María (Автор), Baiget Montserrat (Автор), Carballo Miguel (Автор)
• Формат: ‌
• Опубликовано: BMC, 2006-04-01T00:00:00Z.
• Предметы: article
• Online-ссылка: 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...