Article
Genome-wide linkage and exome analyses identify variants of HMCN1 for splenic epidermoid cyst.
BMC medical genetics - 23 Oct 2014
Omer Waleed H, Narita Akira, Hosomichi Kazuyoshi, Mitsunaga Shigeki, Hayashi Yasuhiro, Yamashita Atsushi, Krasniqi Avdyl, Iwasaki Yuri, Kimura Masami, Inoue Ituro
Abstract excerpt
BACKGROUND: Splenic epidermoid cyst is a benign tumor-like lesion affecting the spleen and sometimes occurs in familial form. The causality of such rare diseases remain challenging, however recently, with the emergence of exome re-sequencing, the genetics of many diseases have been unveiled. In the present study, we performed a combinatorial approach of genome-wide parametric linkage and exome analyses for a...
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