A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV

Large kindred with Ehlers-Danlos syndrom

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in theCOL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives

✍ Gilchrist, Dawna; Schwarze, Ulrike; Shields, Keith; MacLaren, Linda; Bridge, Pet 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 1 views

## Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominant connective tissue disorder. Early morbidity and mortality results from rupture of vessels and internal organs. A large kindred with EDS type IV was studied clinically, and the biochemical defects and underlying mutation in the COL3A1