Concepedia

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

Ute Felbor, Heidl Stöhr, Thomas Amann, Ulrich Schönherr, Bernhard H. F. Weber

Human Molecular Genetics · 1995 · 74 citations · 0 references

Concepts

MedicineMolecular GeneticsMolecular MedicineMolecular PathologyNeuropathologyPathophysiologyGenetic DisordersMatrix Metalloproteinase GeneticsMatrix Metalloproteinase 3 GeneticsMatrix Metalloproteinase Allelic VariantsMatrix Metalloproteinase Gene MutationsMatrix Metalloproteinase Gene PolymorphismsMatrix Metalloproteinase Genetic SusceptibilityMatrix Metalloproteinase Inhibitors

Abstract

Ute Felbor, Heidl Stöhr, Thomas Amann, Ulrich Schönherr, Bernhard H.F. Weber; A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3)