Scientific Newsletter
Mutations of the HPS Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the HPS Gene |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| HPS | Pro 324 insC | CCC ATG-CCC CAT GGA | Homozygous |
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(1) | |||
| HPS | Pro 324 insC | CCC ATG-CCC CAT GGA | 1178 |
Homozygous Additionally G283W V630I |
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(1) | ||
| HPS | Ala 441 insA | GCA CAG-GCA ACA GGA | 1529 | Homozygous |
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(1) | ||
| HPS | Pro 496 ins 16bp | CCA CAC-CCC CAG CAG GGG AGG CCC ACA | 1692 | 15 | Homozygous |
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(1) | |
| Polymorphism | Gly 283 Trp | GGG-TGG | 1053 |
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(1) | ||
| Polymorphism | Val 630 Ile | GTC-ATC | 2094 |
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(1) |
References
1. Oh, J., Bailin, T., Fukai, K., Feng, G.H., Ho, L., Mao, J.I., Frenk, E., Tamura, N., and Spritz, R.A. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 1996; Nat.Genet. 14: 300 - 306.
Goto Top Link to PudMed
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Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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