Article
No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY.
Journal of human genetics - 1 Jul 2018
Horikawa Yukio, Hosomichi Kazuyoshi, Enya Mayumi, Ishiura Hiroyuki, Suzuki Yutaka, Tsuji Shoji, Sugano Sumio, Inoue Ituro, Takeda Jun
Abstract excerpt
MODY 5 and 6 have been shown to be low-penetrant MODYs. As the genetic background of unknown MODY is assumed to be similar, a new analytical strategy is applied here to elucidate genetic predispositions to unknown MODY. We examined to find whether there are major MODY gene loci remaining to be identified using SNP linkage analysis in Japanese. Whole-exome sequencing was performed with seven families with typical...
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