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Article

Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

Investigative ophthalmology & visual science - 1 Sept 2009

Singh Hardeep Pal, Jalali Subhadra, Narayanan Raja, Kannabiran Chitra

Abstract excerpt

PURPOSE: To identify the disease-causing genes in families with autosomal recessive RP (ARRP). METHODS: Families were screened for homozygosity at candidate gene loci followed by screening of the selected gene for pathogenic mutations if homozygosity was present at a given locus. A total of 34 fa...

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Source

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Identifiers

PMID: 19339744
DOI: 10.1167/iovs.09-3479
PMCID: PMC2777646

Genes

ABCA4
TULP1
RLBP1
RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19339744-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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