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Article

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.

Molecular vision - 27 Nov 2007

Vallespin Elena, Lopez-Martinez Miguel-Angel, Cantalapiedra Diego, Riveiro-Alvarez Rosa, Aguirre-Lamban Jana, Avila-Fernandez Almudena, Villaverde Cristina, Trujillo-Tiebas Maria-Jose, Ayuso Carmen

Abstract excerpt

PURPOSE: Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset. To date, eleven genes have been reported to cause the non-syndromic LCA phenotype. The CEP290 gene has been shown to account for Joubert and Senior-Loken syndromes and to represent a frequent cause of non-syndromic LCA. The aim of the present study was to establish the prevalence of CEP290...

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PMID: 18079693

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.PMID 18079693Read ↗

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