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Heterozygous and Homozygous Factor XI Defect in a Consanguineous Family

 

作者: G.I.C. Ingram,   C.R. Rizza,  

 

期刊: Acta Haematologica  （Karger Available online 1976）
卷期: Volume 55, issue 1  

页码: 48-52

 

ISSN:0001-5792

 

年代: 1976

 

DOI:10.1159/000207992

 

出版商: S. Karger AG

 

关键词: Age effect on factor XI;Bleeding disorders;Coagulation;Factor XI defect

 

数据来源: Karger

 

摘要:

A woman with symptoms of prolonged post-traumatic bleeding was found to have a severe defect of factor XI, and was thought to be homozygously affected. Both her parents, who were first cousins, and all her three children, though asymptomatic, showed a moderate defect and appeared to be heterozygous. Both her parents’ factor XI levels were about twice those in her children, and this was thought to be an age effec

 

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