Article
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science - 1 May 2003
Martínez-Gimeno María, Gamundi María José, Hernan Imma, Maseras Miquel, Millá Elena, Ayuso Carmen, García-Sandoval Blanca, Beneyto Magdalena, Vilela Concha, Baiget Montserrat, Antiñolo Guillermo, Carballo Miguel
Abstract excerpt
PURPOSE: Mutations in the systemically expressed pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 have recently been associated with autosomal dominant retinitis pigmentosa (adRP). This study was intended to identify mutations in PRPF3, PRPF8, and PRPF31 in 150 Spanish families affected by adRP, to measure the contribution of mutations in these genes to adRP in that population, and to correlate RP...
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