1.
Thromb Haemost
; 106(6): 1224-5, 2011 Dec.
Article
in English
| MEDLINE
| ID: mdl-21979291
Subject(s)
Mutation/genetics , von Willebrand Disease, Type 2/diagnosis , von Willebrand Disease, Type 2/genetics , von Willebrand Factor/metabolism , Antibodies, Monoclonal/metabolism , Blood Coagulation/genetics , Child, Preschool , DNA Mutational Analysis , Enzyme-Linked Immunosorbent Assay , Epitopes, B-Lymphocyte/genetics , False Positive Reactions , Female , Humans , Middle Aged , Protein Multimerization/genetics , von Willebrand Disease, Type 2/blood , von Willebrand Factor/genetics
2.
Am J Clin Pathol
; 126(1): 128-32, 2006 Jul.
Article
in English
| MEDLINE
| ID: mdl-16753603
ABSTRACT
African Americans with factor VII (FVII) deficiency, as defined by clinical laboratory values, are frequently asymptomatic. To date the genotypes underlying this FVII defect in asymptomatic African Americans have not been established. We show in 3 unrelated African-American patients that the defect is due to a G to A nucleotide change resulting in an arginine to glutamine mutation in Factor VII amino acid 304. This defect results in low FVII coagulant activity levels using rabbit brain thromboplastin but not using human thromboplastin. This report may aid transfusion and hematology specialists evaluate patient results and prevent unnecessary transfusions to treat patients with abnormal laboratory values.