Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3.

Byambatseren Jambaljav,Daisuke Tanaka,Kazuaki Nagashima,Shin-Ichi Harashima,Norio Harada,Takanari Harada,Yuta Fujiwara,Yu Wang,Yanyan Liu,Yasuharu Tabara,Fumihiko Matsuda,Akio Koizumi,Nobuya Inagaki

Diabetes Research and Clinical Practice（2018）

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摘要

•Whole-exome sequencing was performed in a family with multiple cases of diabetes.•Sixteen probably damaging rare variants were shared by all of the 4 affected members.•A137T in ADAMTSL3 was observed more frequently in diabetes subjects than in controls.•A137T in ADAMTSL3 is a candidate mutation for susceptibility to diabetes.

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关键词

Whole-exome sequencing (WES),Rare variant,ADAMTSL3

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