RNF135 mutations are not present in patients with Sotos syndrome-like features

The mutations in the fibronectin gene de

The mutations in the fibronectin gene described in japanese patients with systemic sclerosis are not present in dutch patients

✍ Ron Verheijen; Elna H. Oberyé; Walther J. van Venrooij; Frank H. J. van den Hoog 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 319 KB

Recently, a mutant fibronectin gene was identified in skin fibroblasts obtained from sclerotic lesions of 7 Japanese patients with systemic sclerosis (SSc). Two point mutations were found adjacent to the cellattachment tetrapeptide DNA sequence in exon 7 of the fibronectin gene. In the present study