Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing

Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing

Abstract Whole‐exome sequencing is a new technology. We used it to explore the gene responsible for early‐onset diabetes as a result of impaired insulin secretion in a family. In the INS gene, we identified the heterozygous c.188‐31G>A mutation in the proband – a 43‐year‐old woman. The mutation w...

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Bibliographic Details
Main Authors: Shohei Matsuno, Hiroto Furuta, Kitaro Kosaka, Asako Doi, Tohru Yorifuji, Takuya Fukuda, Takafumi Senmaru, Shinsuke Uraki, Norihiko Matsutani, Machi Furuta, Hiroyuki Mishima, Hiroshi Iwakura, Masahiro Nishi, Kohichiro Yoshiura, Michiaki Fukui, Takashi Akamizu
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Journal of Diabetes Investigation
Subjects:
Early‐onset diabetes
Insulin gene
Mutation
Online Access:https://doi.org/10.1111/jdi.12974

Internet

https://doi.org/10.1111/jdi.12974

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