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DIGITAL.CSIC
Article . 2011 . Peer-reviewed
Data sources: DIGITAL.CSIC
Journal of Medical Genetics
Article . 1998 . Peer-reviewed
Data sources: Crossref
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A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

Authors: Papaioannou, Myrto; Bessant, David; Payne, Annette; Bellingham, James; Rougas, Constantine; Loutradis-Anagnostou, Aphrodite; Gregory-Evans, Cheryl; +2 Authors

A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

Abstract

Retinal photoreceptor dystrophies (RD) are a highly heterogeneous group of genetic disorders of the retina, representing the most frequently inherited form of visual handicap, affecting approximately 1.5 million people world wide. To date, more than 40 genetic loci have been implicated in RD. One of them, the CORD2 locus, for an autosomal dominant form of cone-rod dystrophy (CRD), maps to chromosome 19q and has previously been reported in a single large family of British origin. We now report a new family with severe early onset CRD, phenotypically very similar to the British family, which also maps to 19q, but is of Greek origin. Haplotype data of the Greek family showed no recombination between and including markers D19S219 and D19S246 and linkage analysis gave a lod score of 2.7 (at theta=0) with marker D19S412, confirming the data obtained in the British family.

Countries
United Kingdom, United Kingdom, Spain
Keywords

Male, Chromosome 19q13, Greece, Genetic Linkage, Cone-rod dystrophy, Retinal Degeneration, Chromosome Mapping, Color Vision Defects, Retina, Pedigree, Haplotypes, Humans, Female, Chromosomes, Human, Pair 19, Genes, Dominant

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selected citations
These citations are derived from selected sources.
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!
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