Related Experiment Videos
[Molecular basis of the classical type of Ehlers-Danlos syndrome]
Piotr Wieczorek1, Dariusz Chlubek
1Zakładu Biochemii i Chemii Pomorskiej Akademii Medycznej w Szczecinie.
Abstract:
Classical type of Ehlers-Danlos syndrome (EDS) is the most common variant of the disease, however, its molecular background is still unknown. The paper presents the latest findings concerning this type of EDS. In most cases, mutations in genes encoding type V collagen were found. In some cases, the mutations were excluded indicating the genetic heterogeneity of the disease.