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.
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Authors | M J Trujillo, C Ayuso, M Robledo, B G Sandoval, C Ramos, J Benitez |
Journal | Annales de genetique
(Ann Genet)
Vol. 38
Issue 4
Pg. 225-7
( 1995)
ISSN: 0003-3995 [Print] Netherlands |
PMID | 8629810
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA Primers
- Eye Proteins
- Intermediate Filament Proteins
- Membrane Glycoproteins
- Nerve Tissue Proteins
- PRPH protein, human
- PRPH2 protein, human
- Peripherins
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Topics |
- Base Sequence
- DNA Primers
(chemistry)
- Eye Proteins
(genetics)
- Gene Frequency
- Genes, Dominant
- Heterozygote
- Humans
- Intermediate Filament Proteins
(genetics)
- Ireland
- Membrane Glycoproteins
- Molecular Sequence Data
- Nerve Tissue Proteins
- Peripherins
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Retinitis Pigmentosa
(genetics)
- Spain
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