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Scientific Newsletter


Mutation Database
Mutations of the Tissue Inhibitor of Metalloproteases 3 Gene

Recent update from: 05.08.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference

Mutation map




Map

SFD Ser 156 Cys TCC-TGC



CM951183
(1)
SFD Gly 166 Cys GGC-TGC



CM971321
(2)
SFD Gly 167 Val GGC-GTC



CM951184
(3)
SFD Tyr 168 Cys TAC-TGC



CM941310
(1)
SFD Ser 181 Cys AGC-TGC

+NsiI
CM941311
(1) (4)

References

1. Felbor, U., Stohr, H., Amann, T., Schonherr, U., and Weber, B.H.F. A Novel Ser156Cys Mutation In The Tissue Inhibitor Of Metalloproteinases 3 (TIMP3) In Sorsbys Fundus Dystrophy With Unusual Clinical Features. 1995; Hum.Mol.Genet. 4: 2415 - 2416.
Goto Top Link to PudMed

2. Felbor, U., Suvanto, E.A., Forsius, H.R., Eriksson, A.W., and Weber, B.H. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 1997; Am.J.Hum.Genet. 60: 57 - 62.
Goto Top Link to PudMed

3. Jacobson, S.G., Cideciyan, A.V., Regunath, G., Rodriguez, F.J., Vandenburgh, K., Sheffield, V.C., and Stone, E.M. Night blindness in Sorsby's fundus dystrophy reversed by vitamin. 1995; Nat.Gen. 11: 27 - 32.
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4. Weber, B.H., Vogt, G., Pruett, R.C., Stohr, H., and Felbor, U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. 1994; Nat.Genet. 8: 352 - 356.
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