Mapping the eye diseases

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 an...

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Bibliographic Details
Published inOphthalmic paediatrics and genetics Vol. 13; no. 2; p. 37
Main Authors Frézal, J, Kaplan, J, Dollfus, H
Format Journal Article
LanguageEnglish
Published Netherlands 1992
Subjects
Chromosome Mapping
Eye Diseases - genetics
Gene Rearrangement
Genetic Linkage
Humans
Mutation
Phenotype
Signal Transduction - genetics
Vision, Ocular - physiology
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Summary: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 diseases with eye involvement (metabolic or not) which have been currently mapped, as well as candidate genes actually or putatively involved in visual transduction.
ISSN:0167-6784
DOI:10.3109/13816819209087603