Expansion: the Crucial Mechanism for Type Inference with Intersection Types: A Survey and Explanation

Compound heterozygosity for a disease-ca

Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution inCOL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?

✍ Giunta, Cecilia; Steinmann, Beat 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 1 views

The classical type of Ehlers-Danlos syndrome (EDS) is an autosomal dominant connective tissue disorder characterized by skin hyperelasticity, tissue fragility, and joint hypermobility. We investigated the molecular defect of EDS in a three-generation family. Cultured dermal fibroblasts from the prop