Germ line origins of de novo mutations in hemophilia B families.
Germ line origins of de novo mutations in hemophilia B families.
复制标题
血友病 B 家族中从头突变的种系起源。
DOI：
10.1007/bf00208288
复制
发表时间：
1994
期刊：
影响因子：
5.3
通讯作者：
Chen,SH
中科院分区：
文献类型：
--
作者：
Thompson,AR;Chen,SH
14例新生血友病B突变中有13例的生殖系起源已确定。当添加到以前的报告，起源，假设没有镶嵌，发生在43名女性和33名男性配子。男性的突变率估计值是女性的两倍。汇总数据还表明，男性和女性生殖系根据突变类型具有不同的突变率。
The germ line of origin for 13 of 14 de novo hemophilia B mutations has been determined. When added to previous reports, the origin, assuming no mosaicism, occurred in 43 female and 33 male gametes. Mutation rate estimates are twofold higher in males than in females. The pooled data also indicate that male and female germ lines have different mutation rates depending upon the type of mutation.