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Article

Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.

PloS one - 1 Jan 2013

Verma Anshuman, Perumalsamy Vijayalakshmi, Shetty Shashikant, Kulm Maigi, Sundaresan Periasamy

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been known to cause LCA and among them, RPE65 is a suitable candidate for gene therapy. The mutational screenings of RPE65 and other LCA genes are requisite in support of emerging gene specific therapy for LCA. Therefore, we have carried out a...

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Source

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Identifiers

PMID: 24066033
DOI: 10.1371/journal.pone.0073172
PMCID: PMC3774716

Genes

RPE65
AIPL1
CRX
IQCB1
RPGRIP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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