Publication: Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina
Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina
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Weigell-Weber, M., Kryenbühl, C., Büchi, E. R., & Spiegel, R. (1996). Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina. Molecular Vision, 2, 6. http://www.molvis.org/molvis/v2/a6/
Abstract
Abstract
Abstract
PURPOSE: Mutations in the retinal degeneration slow (RDS)/peripherin gene have been shown to be associated with pattern dystrophy of the retina (PDR) and other retinal dystrophies. The aim of our study was to confirm or exclude the RDS locus and the rhodopsin (RHO) locus as the disease causing locus in a large Swiss family affected with pattern dystrophy of the retina.
MATERIALS AND METHODS: A Swiss family with 14 members across 3 generations affected with PDR was examined. Eleven living family members were investigated using 6 marke
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- Weigell-Weber, Maike
- Kryenbühl, Christoph
- Büchi, Ernst R
- Spiegel, Roland
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Weigell-Weber, M., Kryenbühl, C., Büchi, E. R., & Spiegel, R. (1996). Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina. Molecular Vision, 2, 6. http://www.molvis.org/molvis/v2/a6/
