Recurrent COL3A1 mutation results in EDS IV or familial aneurysms.
Anderson
D W
DW
Department of Medicine, UMDNJ-Robert Wood Johnson Medical School, Piscataway, New Jersey 08854, USA.
Thakker-Varia
S
S
Stolle
C A
CA
D000783:Aneurysm / Q000235:genetics*; D002648:Child; D003094:Collagen / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics
D012333:RNA, Messenger; D003094:Collagen