An intragenic deletion of the factor IX gene in a family with hemophilia B.
An intragenic deletion of the factor IX gene in a family with hemophilia B.
复制标题
B 型血友病家族中 IX 因子基因的基因内缺失。
DOI：
10.1172/jci112222
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发表时间：
1985
期刊：
影响因子：
--
通讯作者：
Kurachi,K
中科院分区：
文献类型：
--
作者：
Chen,SH;Yoshitake,S;Chance,PF;Bray,GL;Thompson,AR;Scott,CR;Kurachi,K
A family of seven patients severely afflicted with hemophilia B has been studied for their factor IX genes through the use of factor IX cDNA and genomic DNA probes. The patients had detectable (less than 10% of normal) factor IX antigen in urine and no detectable inhibitors in sera to factor IX protein. Based on the DNA hybridization analysis, these patients showed a partial intragenic deletion in their factor IX gene. The deletion included two exons (exons V and VI) coding for the amino acid sequence from number 85 to 195 of the factor IX protein. The deleted portion of the gene contained the entire factor IX activation peptide. The length of the deletion was estimated to be 10 +/- 0.3 kilobase pairs. This specific gene has been named FIXSeattle. In this family both the deletion and a Taq 1 restriction fragment length polymorphism can be used as a useful marker for accurate detection of female carriers of the deficient factor IX gene.Images
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通过直接基因分析在 B 型血友病（IX 因子缺乏）家族中进行携带者检测
DOI：
--
发表时间：
1984
期刊：
The Lancet
影响因子：
--
作者：
I. Peake;B. Furlong;A. Bloom
通讯作者：
A. Bloom
使用两个进一步的基因内限制性片段长度多态性检测 B 型血友病的携带者。
影响因子：
14.9
作者：
P. Winship;D. Anson;C. Rizza;G. Brownlee
通讯作者：
G. Brownlee
因子 VIII 抑制剂的测量。
DOI：
--
发表时间：
1984
期刊：
Progress in clinical and biological research
影响因子：
--
作者：
C. Kasper
通讯作者：
C. Kasper
影响因子：
2.9
作者：
YOSHITAKE, S;SCHACH, BG;KURACHI, K
通讯作者：
KURACHI, K
羊水和胎儿血浆中的因子 IX 和凝血酶原：B 型血友病产前诊断的限制和蛋白水解的证据。
影响因子：
20.3
作者：
A. Thompson
通讯作者：
A. Thompson