FACTOR-13 DEFICIENCY - FAMILY STUDY BY MEASUREMENT OF FACTOR-13 SUBUNIT-A AND SUBUNIT-S

被引：9

作者：

FRANCIS, JL ^{[1
]}

TODD, PJ ^{[1
]}

机构：

[1] CHESTER CITY HOSP,DEPT PAEDIAT,CHESTER CH2 3EH,ENGLAND

来源：

ACTA HAEMATOLOGICA | 1979年 / 62卷 / 03期

关键词：

D O I：

10.1159/000207564

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：167 / 172

页数：6

共 21 条

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