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|Title:||Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531) -> His mutation|
|Citation:||Blood Coagulation & Fibrinolysis, 2010; 21(5):474-475|
|Publisher:||Lippincott Williams & Wilkins|
|Shriram V. Nath, Vaughan K. Williams, Adrian B. Griffiths and Tamas Revesz|
|Abstract:||Routine screening of infants born to known hemophilia carriers includes a factor VIII (FVIII) level. In routine practice, mild FVIII deficiency variants may be missed by laboratories that exclusively use a one-stage activated partial thromboplastin time-based activity assay. This case illustrates such a possibility with a discrepancy between the one-stage and two-stage assays performed on a child who carries the Arg531!His mutation.|
|Keywords:||Humans; Hemophilia A; Arginine; Histidine; Factor VIII; Amino Acid Substitution; Mutation, Missense; Child; Male|
|Rights:||© 2010 Wolters Kluwer Health | LippincottWilliams & Wilkins|
|Appears in Collections:||Paediatrics publications|
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