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The American Journal of Human Genetics
Article . 2000 . Peer-reviewed
License: CC BY NC ND
Data sources: Crossref
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The American Journal of Human Genetics
Article
License: Elsevier Non-Commercial
Data sources: UnpayWall
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The American Journal of Human Genetics
Article . 2000
License: Elsevier Non-Commercial
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Simple and Complex ABCR: Genetic Predisposition to Retinal Disease

Authors: Rando Allikmets;

Simple and Complex ABCR: Genetic Predisposition to Retinal Disease

Abstract

Diseases of the retina include a wide spectrum of photoreceptor-affecting phenotypes that have been mapped to >120 loci on the human genome (RetNet Retinal Information Network). Currently, less than half of the causal genes have been identified (RetNet Retinal Information Network), although substantial progress has been made in determining the genetic basis of monogenic eye disorders. Mutations in new genes that are responsible for some form of retinal degeneration are identified on a regular basis. The vast majority of these genes are involved in rare phenotypes in a limited numbers of patients.

Related Organizations
Keywords

Aging, Macular Degeneration, Meta-Analysis as Topic, Retinal Diseases, Genetics, Humans, Genetics(clinical), ATP-Binding Cassette Transporters, Genetic Predisposition to Disease, Age of Onset, Alleles, Retinitis Pigmentosa

  • BIP!
    Impact byBIP!
    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    112
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
112
Top 10%
Top 10%
Top 10%
hybrid