Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type.
Department of Hemostasis and Transfusion Medicine, Ludwig-Maximilians-University of Munich, Munich, Germany.
H W
HW
Ott
University of Applied Sciences Tyrol, Innsbruck, Austria.
S
S
Perkhofer
Center for Medical Genetics, University Hospital Ghent, Gent, Belgium.
P J
PJ
Coucke
Center for Medical Genetics, University Hospital Ghent, Gent, Belgium.
A
A
de Paepe
Department of Hemostasis and Transfusion Medicine, Ludwig-Maximilians-University of Munich, Munich, Germany.
M
M
Spannagl
D000328:Adult; D000483:Alleles; D024062:Collagen Type V / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005169:Factor VIII / Q000032:analysis; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000473:pathology; D006801:Humans; D008796:Metrorrhagia / Q000175:diagnosis / Q000209:etiology; D010314:Partial Thromboplastin Time; D056725:von Willebrand Disease, Type 1 / Q000150:complications / Q000175:diagnosis*
C530725:COL5A1 protein, human; D024062:Collagen Type V; D005169:Factor VIII