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Article

Analysis of three genes in Leber congenital amaurosis in Indonesian patients.

Vision research - 1 Dec 2003

Sitorus Rita S, Lorenz Birgit, Preising Markus N

Abstract excerpt

PURPOSE: To assess the frequency, the pattern of disease causing mutations, and phenotypic variations in patients with Leber congenital amaurosis (LCA) from Indonesia. PATIENTS AND METHODS: Twenty-one unrelated index cases with a clinical diagnosis of LCA were screened for mutations in the coding sequence of RetGC1, RPE65 and AIPL1 gene with single strand conformation polymorphism analysis followed by direct...

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Source

Identifiers

PMID: 14611946
DOI: 10.1016/j.visres.2003.08.008

Genes

AIPL1
RPE65

Variants

Provenance

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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