[Molecular basis of the classical type of Ehlers-Danlos syndrome].
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.
Wieczorek
Piotr
P
Zakładu Biochemii i Chemii Pomorskiej Akademii Medycznej w Szczecinie.
Chlubek
Dariusz
D
D003094:Collagen / Q000235:genetics; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D024062:Collagen Type V / Q000502:physiology; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics*; D029968:Escherichia coli Proteins; D006801:Humans; D009154:Mutation
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D024062:Collagen Type V; D029968:Escherichia coli Proteins; D003094:Collagen