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Scientific Newsletter


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

Mutation map




Map

ML/DHRD Arg 345 Trp CGG-TGG 1033 10

CM990349
(1)
Polymorphism Thr 181 Thr ACG-ACA 0543




(1)
Polymorphism Ile 220 Phe ATC-TTC 0658




(1)
Polymorphism Ser 456 Ser TCA-TCG 1368




(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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This site is maintained and edited by
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