Francis J L, Todd P J
Acta Haematol. 1979;62(3):167-72. doi: 10.1159/000207564.
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.
通过对一名患有先天性因子 XIII 缺乏症的女孩及其大家庭进行因子 XIII 亚基 A 和 S 的免疫电泳分析，发现纯合子缺乏亚基 A 且亚基 S 水平降低。杂合子的两个亚基水平均降低，通过测量亚基 A 比通过亚基 S/亚基 A 的比值更容易识别。先证者的母亲似乎是一个新的杂合子，但父系的杂合性可追溯三代。
