Article
Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.
Journal of human genetics - 1 Jun 2013
Yan Junxia, Takahashi Tsutomu, Ohura Toshihiro, Adachi Hiroyuki, Takahashi Ikuko, Ogawa Eishin, Okuda Hiroko, Kobayashi Hatasu, Hitomi Toshiaki, Liu Wanyang, Harada Kouji H, Koizumi Akio
Abstract excerpt
Familial goiter is a genetic disease showing heterogeneous expression. To identify causative genes, we investigated three multigenerational goiter families with an autosomal dominant inheritance pattern. We performed genome-wide linkage analysis on all the families, combined with whole-exome sequencing in two affected individuals from each family. For linkage analysis, we considered loci with logarithm of odds...
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