Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia

Search for mutations in a segment of the

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: New mutations, R1315C and R1341W, associated with type 2M and 2B variants

✍ Casaña, Pilar; Martínez, Francisco; Espinós, Carmen; Haya, Saturnino; Lorenzo, J 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 431 KB 👁 1 views

von Willebrand Disease (vWD) is the most frequently inherited bleeding disorder in humans, and is caused by a qualitative and/or quantitative abnormality of the von Willebrand factor (vWF). A large number of defects that cause qualitative variants have been located in the A1 domain of the vWF, which