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Article

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

American journal of human genetics - 1 May 2001

Dryja T P, Adams S M, Grimsby J L, McGee T L, Hong D H, Li T, Andréasson S, Berson E L

Abstract excerpt

We isolated and characterized the entire coding sequence of a human gene encoding a protein that interacts with RPGR, a protein that is absent or mutant in many cases of X-linked retinitis pigmentosa. The newly identified gene, called "RPGRIP1" for RPGR-interacting protein (MIM 605446), is located within 14q11, and it encodes a protein predicted to contain 1,259 amino acids. Previously published work showed that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11283794
DOI: 10.1086/320113
PMCID: PMC1226111

Genes

RPGRIP1
RPGR

Provenance

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.

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