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Article

Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.

Ophthalmic genetics - 1 Jan 2015

Tzu Jonathan H, Arguello Tania, Berrocal Audina M, Berrocal Maria, Weisman Alejandra D, Liu Mu, Hess Ditte, Caputo Michelle, Goldberg Jeffrey L, Feuer William J, Stone Edwin M, Lam Byron L

Abstract excerpt

PURPOSE: To phenotypically and genotypically characterize a large Puerto Rican kindred with X-linked retinitis pigmentosa associated with a novel RP GTPase regulator (RPGR) genotype. METHODS: A total of 100 family members of a single kindred with X-linked RP were evaluated with ophthalmic examinations and blood DNA analysis. Visual fields, OCT, and full-field ERG were obtained on all affected males and carriers....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24555744
DOI: 10.3109/13816810.2014.886267

Genes

ERG
RPGR

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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Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.PMID 24555744Read ↗

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