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gene mutations
Items for "gene mutations"
Two sibling cases of hydrops fetalis due to alloimmune anti-CD36 (Naka) antibody
Two female sibling cases, who were born to a CD36 deficient mother, were presented with Coombs test-negative hydrops...
Keywords: Platelet immunology, gene mutations, immunity (auto-)
00/0000 | Thrombosis and Haemostasis, SchattauerVascular risk factors in sudden hearing loss
Low density lipoprotein (LDL) and fibrinogen apheresis was recently reported to be an effective therapy in sudden hearing loss (SHL)...
Keywords: gene mutations, platelet physiology, fibrinogen / fibrin, lipid mediators, Thrombophilia
03/2006 | Thrombosis and Haemostasis, SchattauerCharacterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations
Direct sequencing of the coding region of factor VIII (F8) gene was used to determine the mutations responsible for severe haemophilia A (FVIII<1%) in 128 unrelated haemophiliacs A, negative for intron 22 and intron 1 inversions...
Keywords: Haemophilia A/B, gene mutations, inherited coagulation disorders
04/2006 | Thrombosis and Haemostasis, Schattauer