Article
[A case of dysfibrinogenemia without hemorrhagic diathesis or thromboembolism linked to a new mutation p.H103N in fibrinogen γ chain].
Annales de biologie clinique - 1 Jan 2000
Devignes Jean, Hanss Michel, Chabaud Angéline, Toussaint-Hacquard Marie, Mansuy Ludovic, De Mazancourt Philippe, Lecompte Thomas
Abstract excerpt
This work describes a dysfibrinogenemia linked to a new mutation in the gene coding for fibrinogen γ chain. Dysfibrinogenemia was fortuitously discovered in a 9-year old boy consulting for symptoms suggesting meningitis. DNA was extracted from blood, the fibrinogen genes coding for Aα, Bβ and γ chains were sequenced, and compared with consensus sequences. Apart from the patient, dysfibrinogenemia and the mutation...
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