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A new family with congenital factor XIII deficiency showing a deficit of both subunit A and B. Type I factor XIII deficiency.

作者信息

Capellato M G, Lazzaro A R, Marafioti F, Polato G, Girolami A

机构信息

Institute of Medical Semiotics, University of Padua, Medical School, Padova, Italy.

出版信息

Haematologia (Budap). 1987;20(3):179-87.

PMID:2891592
Abstract

In this study we present a new case of Factor XIII deficiency. The proposita, a 34 year old woman, showed a deficiency of both subunit a and subunit b, and a moderate bleeding tendency. Because of the concomitant decrease of subunits a and b the proposita is considered to be an example of Type I disease. Factor XIII levels were less than 10% both as activity and antigen. Several family members showed intermediate levels of both subunit a and b and were asymptomatic. They were considered to be heterozygotes. The hereditary pattern is autosomal incompletely recessive. Type I disease appears much less frequent than Type II.

摘要

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Administration of factor XIII B subunit increased plasma factor XIII A subunit levels in factor XIII B subunit knock-out mice.
给因子XIII B亚基基因敲除小鼠注射因子XIII B亚基可提高血浆因子XIII A亚基水平。
Int J Hematol. 2008 Jan;87(1):60-8. doi: 10.1007/s12185-007-0005-z. Epub 2007 Dec 5.
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