作者: G. Ponti , E. Castellsagué , C. Ruini , A. Percesepe , A. Tomasi
DOI: 10.1111/CGE.12529
关键词: MSH6 、 MSH2 、 PMS2 、 Population 、 Genetics 、 Lynch syndrome 、 Biology 、 Genetic testing 、 Gene mutation 、 MLH1
摘要: Founder mutations in specific populations are common in several Mendelian disorders. They are shared by apparently unrelated families that inherited them from a common ancestor …