Article
High prevalence of copy number variations in the Japanese participants with suspected MODY.
Clinical genetics - 1 Sept 2024
Tanaka Satoshi, Akagawa Hiroyuki, Azuma Kenkou, Higuchi Sayaka, Ujiie Atsushi, Hashimoto Koshi, Iwasaki Naoko
Abstract excerpt
Maturity-Onset Diabetes of the Young (MODY) is a diabetes mellitus subtype caused by a single gene. The detection rate of the responsible gene is 27% in the United Kingdom, indicating that the causative gene remains unknown in the majority of clinically diagnosed MODY cases. To improve the detection rate, we applied comprehensive genetic testing using whole exome sequencing (WES) followed by Multiplex...
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