Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin |
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| Authors: | Jacquie Gresnbarg Michelle Babaya Raj Ramasar Pater Beighton |
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| Affiliation: | MRC Research Unit for Inherited Skeletal Disorders, Department of Human Genetics, University of Cape Town, Medical School, South Africa. |
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| Abstract: | ![]()
Linkage analysis has been performed on a large South African family of British origin in which 39 persons in 6 generations had early onset Type I autosomal dominant retinitis pigmentosa (ADRP). Tight linkage was excluded between the disease and the D3S47 locus on chromosome 3. This finding is further evidence for genetic heterogeneity in ADRP. |
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| Keywords: | autosomal dominant heterogeneity linkage study retinitis pigmentosa |
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