Inherited retinal degeneration: exceptional genetic and clinical heterogeneity (Q34404107)

2 August 2017

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title

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity (English)

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2 August 2017

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2

S P Daiger

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2 August 2017

L S Sullivan

1

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2 August 2017

publication date

1 September 1996

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Trends in Molecular Medicine

2 August 2017

published in

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2 August 2017

volume

2

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2 August 2017

issue

9

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2 August 2017

page(s)

380-386

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Molecular genetics of retinitis pigmentosa

2 August 2017

cites work

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7 January 2021

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

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An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

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Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa

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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

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A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

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Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

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Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

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Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

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7 January 2021

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

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Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

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Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin

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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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Rhodopsin: structure, function, and genetics

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Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

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A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

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Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

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Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa

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Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

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Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit

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7 January 2021

10.1016/S1357-4310(96)10037-X

Identifiers

DOI

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2 August 2017

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