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Article

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 2011

Stone Edwin M, Cideciyan Artur V, Aleman Tomas S, Scheetz Todd E, Sumaroka Alexander, Ehlinger Mary A, Schwartz Sharon B, Fishman Gerald A, Traboulsi Elias I, Lam Byron L, Fulton Anne B, Mullins Robert F, Sheffield Val C, Jacobson Samuel G

Abstract excerpt

OBJECTIVE: To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease. METHODS: DNA samples from 276 individuals with nonsyndromic LCA were screened for variations in the NPHP5 gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease-causing genotype. RESULTS: Nine of the 276 LCA probands (3.2%) harbored 2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21220633
DOI: 10.1001/archophthalmol.2010.330
PMCID: PMC3952880

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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