Phenotypic overlap between familial aneurysms and Ehlers-Danlos syndrome type IV resulting from a type III procollagen gene mutation.
Anderson
D W
DW
Department of Medicine, UMDNJ-Robert Wood Johnson Medical School, Piscataway 08854, USA.
Thakker-Varia
S
S
Stolle
C A
CA
D002648:Child; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005109:Extracellular Matrix / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011347:Procollagen / Q000172:deficiency / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics; D012867:Skin / Q000378:metabolism / Q000473:pathology
D011347:Procollagen; D012333:RNA, Messenger