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Article

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

American journal of human genetics - 1 Apr 2002

Eichers Erica R, Green Jane S, Stockton David W, Jackman Christopher S, Whelan James, McNamara J Arch, Johnson Gordon J, Lupski James R, Katsanis Nicholas

Abstract excerpt

Some isolated populations exhibit an increased prevalence of rare recessive diseases. The island of Newfoundland is a characteristic geographic isolate, settled by a small number of families primarily during the late 1700s and early 1800s. During our studies of this population, we identified a group of families exhibiting a retinal dystrophy reminiscent of retinitis punctata albescens but with a substantially...

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Identifiers

PMID: 11868161
DOI: 10.1086/339688
PMCID: PMC379124

Genes

RLBP1

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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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Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.PMID 11868161Read ↗

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