Searched for: subject%3A%22Autosomal%255C%2Brecessive%255C%2Binheritance%22
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Kluft, C. (author), Nieuwenhuis, H.K. (author), Rijken, D.C. (author), Groeneveld, E. (author), Wijngaards, G. (author), van Berkel, W. (author), Dooijewaard, G. (author), Sixma, J.J. (author), Gaubius instituut TNO (author)
??2-Antiplasmin (??2-AP) is a major fibrinolysis inhibitor, whose complete, congenital absence has been found to be associated with a distinct hemorrhagic diathesis. We studied a 15-yr-old male with a hemorrhagic diathesis after trauma from early childhood on. This bleeding tendency was associated with a minimal ??2-AP level recorded...
article 1987
Kluft, C. (author), Vellenga, E. (author), Brommer, E.J.P. (author), Wijngaards, G. (author), Gaubius instituut TNO (author)
This study concerns a case of congenital homozygous deficiency in ??2-antiplasmin associated with a severe hemorrhagic diathesis. Heterozygous family members also show a mild bleeding tendency. The propositus is a 17-yr-old male born of white parents and showing a severe hemorrhagic diathesis characterized by spontaneous bleeding in the joints...
article 1982