Abstract
The authors report a study of polymorphisms in the peripherin-RDS gene in 21 Spanish families affected with Autosomal Dominant Retinitis Pigmentosa and 56 unrelated normal individuals. We found 3 variants in first exon and nine variants in the third exon in an SSCP analysis, all corresponding to different previously described polymorphisms.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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DNA Primers / chemistry
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Eye Proteins / genetics*
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Gene Frequency
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Genes, Dominant
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Heterozygote
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Humans
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Intermediate Filament Proteins / genetics*
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Ireland
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Membrane Glycoproteins*
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Molecular Sequence Data
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Nerve Tissue Proteins*
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Peripherins
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Polymorphism, Genetic
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Polymorphism, Single-Stranded Conformational
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Retinitis Pigmentosa / genetics*
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Spain
Substances
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DNA Primers
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Eye Proteins
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Intermediate Filament Proteins
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Membrane Glycoproteins
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Nerve Tissue Proteins
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PRPH protein, human
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PRPH2 protein, human
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Peripherins