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

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

<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...

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Bibliographic Details
Main Authors: Antiñolo Guillermo, Ayuso Carmen, García-Sandoval Blanca, Maseras Miquel, Martínez-Gimeno María, Hernan Imma, Gamundi María, Baiget Montserrat, Carballo Miguel
Format: Article
Language:English
Published: BMC 2006-04-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/7/35

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http://www.biomedcentral.com/1471-2350/7/35

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