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Factor XIII deficiency. A family study by measurement of factor XIII subunits A and S.

作者信息

Francis J L, Todd P J

出版信息

Acta Haematol. 1979;62(3):167-72. doi: 10.1159/000207564.

Abstract

A girl with congenital factor XIII deficiency and her large family have been studied by electroimmunoassay of factor XIII subunits A and S. The homozygote has absence of subunit A and a decreased level of subunit S. The heterozygotes have decreased levels of both subunits, and were more readily identified by measurement of subunit A than by the ratio subunit S/subunit A. The mother of the propositus appears to be a new heterozygote, but heterozygosity on the paternal side is traced through three generations.

摘要

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