A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop)
نویسندگان
چکیده
منابع مشابه
A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop).
In this study, we describe a novel thrombomodulin (TM) mutation (c.1611C>A) that codes for a change from cysteine 537 to a premature stop codon (p.Cys537Stop). Three members of a family with a history of posttraumatic bleeding were identified to be heterozygous for this TM mutation. All coagulation screening tests, coagulation factor assays, and platelet function test results were within normal...
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ژورنال
عنوان ژورنال: Blood
سال: 2014
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2014-02-557538