Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q (Q24539021)

2

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C Y Gregory-Evans

3

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G E Holder

4

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M R Jay

5

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B H Weber

6

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A T Moore

7

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A C Bird

8

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D M Hunt

American Journal of Human Genetics

9

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language of work or name

English

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publication date

July 1998

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published in

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volume

63

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issue

1

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page(s)

274-9

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cites work

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

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Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

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Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

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North Carolina macular dystrophy is assigned to chromosome 6

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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

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Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

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Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

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Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

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Strategies for multilocus linkage analysis in humans

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Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration

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Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q

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Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p

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Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

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Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene

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RDS/peripherin gene mutations are frequent causes of central retinal dystrophies

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Replication pattern of the X chromosomes in three X/autosomal translocations.

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Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27).

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Partial trisomy 6q and bilateral retinal detachment.

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A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

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