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Mutations in the Pre-mRNA Splicing-Factor Genes PRPF3, PRPF8, and PRPF31 in Spanish Families with Autosomal Dominant

By Retinitis Pigmentosa, María Martínez-gimeno, María José Gamundi, Imma Hernan, Miquel Maseras, Elena Millá, Carmen Ayuso, Blanca García-s, Magdalena Beneyto, Concha Vilela, Montserrat Baiget, Guillermo Antiñolo and Miguel Carballo

Abstract

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 phenotype expression with mutations in pre-mRNA splicing-factor genes. METHODS. Denaturing gradient gel electrophoresis (DGGE) and direct genomic sequencing were used to evaluate the complete coding region and flanking intronic sequences of the PRPF31 gene, exon 42 of PRPF8, and exon 11 of PRPF3 for mutations in 150 unrelated index patients with adRP. Ophthalmic and electrophysiological examination of patients with RP and thei

Year: 2014
OAI identifier: oai:CiteSeerX.psu:10.1.1.412.9915
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