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Article

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

3 Jun 2007

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17546029
DOI: 10.1038/ng2066

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisPMID 17546029Read ↗

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.Semantic proximity Read ↗

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.Semantic proximity Read ↗

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.Semantic proximity Read ↗

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Semantic proximity Read ↗

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.Semantic proximity Read ↗

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.Semantic proximity Read ↗

Molecular genetics of Leber congenital amaurosis.Semantic proximity Read ↗

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Semantic proximity Read ↗

Leber congenital amaurosis: Genes, proteins and disease mechanismsSemantic proximity Read ↗

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.Semantic proximity Read ↗

[From gene to disease; Leber congenital amaurosis (LCA)].Semantic proximity Read ↗

LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.Semantic proximity Read ↗

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