Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/61882
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Type: Journal article
Title: Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531) -> His mutation
Author: Nath, S.
Williams, V.
Griffiths, A.
Revesz, T.
Citation: Blood Coagulation & Fibrinolysis, 2010; 21(5):474-475
Publisher: Lippincott Williams & Wilkins
Issue Date: 2010
ISSN: 0957-5235
1473-5733
Statement of
Responsibility: 
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
RMID: 0020100293
DOI: 10.1097/MBC.0b013e328338db53
Appears in Collections:Paediatrics publications

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