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Article

Mapping the eye diseases.

Ophthalmic paediatrics and genetics - 1 Jun 1992

Frézal J, Kaplan J, Dollfus H

Abstract excerpt

In this review the authors first give an overview of the general strategies of mapping which differ whether the biochemical (molecular) defect of the disease is known or not. The main problems besides mapping are concerned for the first category with the correlation between mutation and phenotype and for the second, with heterogeneity, genetic vs phenotypic. Finally, tables are displayed of eye diseases or...

Topics

Chromosome Mapping
Eye Diseases
Gene Rearrangement
Genetic Linkage
Humans
Mutation
Phenotype
Signal Transduction
Vision, Ocular

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1495766
DOI: 10.3109/13816819209087603

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1495766-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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