Scientific Newsletter
Mutations of the EGF-containing fibulin-like extracellular matrix protein 1
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the EGF-containing fibulin-like extracellular matrix protein 1 |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
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| Mutation map |
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Map |
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| ML/DHRD | Arg 345 Trp | CGG-TGG | 1033 | 10 |
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CM990349 |
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(1) | |
| Polymorphism | Thr 181 Thr | ACG-ACA | 0543 |
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(1) | ||
| Polymorphism | Ile 220 Phe | ATC-TTC | 0658 |
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(1) | ||
| Polymorphism | Ser 456 Ser | TCA-TCG | 1368 |
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(1) |
References
1. Stone, E.M., Lotery, A.J., Munier, F.L., Heon, E., Piguet, B., Guymer, R.H., Vandenburgh, K., Cousin, P., Nishimura, D., Swiderski, R.E., Silvestri, G., Mackey, D.A., Hageman, G.S., Bird, A.C., Sheffield, V.C., and Schorderet, D.F. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 1999; Nat.Genet. 22: 199 - 202.
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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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