Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene (Q24646045)

1

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Dianna K Hughbanks-Wheaton

2

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Kirsten G Locke

3

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Garry E Fish

4

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Anisa I Gire

5

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Catherine J Spellicy

6

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Lori S Sullivan

7

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Sara J Bowne

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David G Birch

American Journal of Ophthalmology

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language of work or name

English

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publication date

November 2005

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published in

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volume

140

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issue

5

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page(s)

858-867

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Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

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Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn

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Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice

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Foveal lesions seen in retinitis pigmentosa

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Type I Inosine Monophosphate Dehydrogenase: Evidence for a Single Functional Gene in Mammalian Species

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12 December 2020

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

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12 December 2020

Effects of human T lymphocyte activation on inosine monophosphate dehydrogenase expression

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12 December 2020

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

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12 December 2020

Abnormal activation and inactivation mechanisms of rod transduction in patients with autosomal dominant retinitis pigmentosa and the pro-23-his mutation

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12 December 2020

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q

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12 December 2020

Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig

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12 December 2020

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12 December 2020

Molecular basis of dark adaptation in rod photoreceptors

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12 December 2020

Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy

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12 December 2020

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)

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12 December 2020

Quantitative electroretinogram measures of phototransduction in cone and rod photoreceptors: normal aging, progression with disease, and test-retest variability

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12 December 2020

Cone and rod ERG phototransduction parameters in retinitis pigmentosa

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12 December 2020