Molecular basis of the classical type of Ehlers-Danlos syndrome
Wieczorek, P.; Chlubek, D.
Wiadomosci Lekarskie 55(5-6): 332-337
2002
ISSN/ISBN: 0043-5147 PMID: 12235701 Document Number: 550571
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.