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Article

Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.

Ophthalmic genetics - 1 Dec 2003

Rudolph Günther, Preising Markus, Kalpadakis Petros, Haritoglou Christos, Lang Gabriele E, Lorenz Birgit

Abstract excerpt

PURPOSE: To perform genotype-phenotype correlations in a family with choroideremia. METHODS: A three-generation family with two affected males and five carriers was the subject of the study. Molecular genetic analysis using single-strand conformation polymorphism analysis (SSCP) was conducted in...

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Source

Identifiers

PMID: 14566650
DOI: 10.1076/opge.24.4.203.17232

Genes

ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14566650-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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