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Article

A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation.

Eye (London, England) - 1 Jan 2009

Kalyanasundaram T S, Black G C, O'Sullivan J, Bishop P N

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Share to Intermediate Filament Proteins
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18356930
DOI: 10.1038/eye.2008.33

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation.PMID 18356930Read ↗

A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophySemantic proximity Read ↗

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.Semantic proximity Read ↗

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.Semantic proximity Read ↗

The role of the peripherin/RDS gene in retinal dystrophies.Semantic proximity Read ↗

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.Semantic proximity Read ↗

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.Semantic proximity Read ↗

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.Semantic proximity Read ↗

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.Semantic proximity Read ↗

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.Semantic proximity Read ↗

A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.Semantic proximity Read ↗

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.Semantic proximity Read ↗

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