Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome.
Hoffman
Guy G
GG
Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin 53706, USA.
Dodson
Gerald E
GE
Cole
William G
WG
Greenspan
Daniel S
DS
D000483:Alleles; D003095:Collagen Diseases / Q000235:genetics*; D024062:Collagen Type V / Q000235:genetics*; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*
D024062:Collagen Type V