✦ LIBER ✦

Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy

✍ Scribed by Marton Fogarasi; Andreas Janssen; Bernhard H.F. Weber; Heidi Stöhr

Book ID: 116729652
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 809 KB
Volume: 27
Category: Article
ISSN: 0945-053X
DOI: 10.1016/j.matbio.2008.01.008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Sorsby fundus dystrophy mutation Timp3S1

Sorsby fundus dystrophy mutation Timp3S156C affects the morphological and biochemical phenotype but not metalloproteinase homeostasis

✍ Galina Soboleva; Birgit Geis; Heinrich Schrewe; Bernhard H.F. Weber 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 301 KB

## Abstract The tissue inhibitor of metalloproteinases‐3 (TIMP3) is a multifunctional protein tightly associated with the extracellular matrix (ECM). A specific type of mutation in TIMP3 which results in potentially unpaired cysteine residues at the C‐terminus of the protein has been shown to cause

Mutations in the tissue inhibitor of met

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

✍ Weber, Bernhard H. F.; Vogt, Gudrun; Pruett, Ronald C.; Stöhr, Heidi; Felbor, Ut 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 816 KB

A novel splice site mutation in the tiss

A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby’s fundus dystrophy with unusual clinical features

✍ Yoshiaki Tabata; Yasushi Isashiki; Kousaku Kamimura; Kumiko Nakao; N. Ohba 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 78 KB