Antithrombin III‐Amiens: A new family with an Arg47→ cys inherited variant of antithrombin iii with impaired heparin cofactor activity
作者:
B. Roussel,
J. Dieval,
J. Delobel,
F. Fernandez‐Rachubinski,
B. Eng,
R. A. Rachubinski,
M. A. Blajchman,
期刊:
American Journal of Hematology
(WILEY Available online 1991)
卷期:
Volume 36,
issue 1
页码: 25-29
ISSN:0361-8609
年代: 1991
DOI:10.1002/ajh.2830360106
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: antithrompin III;heparin;molecular pathology;polymerase chain reaction
数据来源: WILEY
摘要:
AbstractA family with an antithrombin III variant (AT‐III‐Amiens) demonstrating abnormal heparin cofactor activity is described. Amplification and direct sequencing of genomic DNA by the polymerase chain reaction procedure permitted the identification of an Arg47Cys mutation in exon 2 of the variant antithrombin III g
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