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

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 was also i...

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Vydáno v:J Diabetes Investig
Hlavní autoři: Matsuno, Shohei, Furuta, Hiroto, Kosaka, Kitaro, Doi, Asako, Yorifuji, Tohru, Fukuda, Takuya, Senmaru, Takafumi, Uraki, Shinsuke, Matsutani, Norihiko, Furuta, Machi, Mishima, Hiroyuki, Iwakura, Hiroshi, Nishi, Masahiro, Yoshiura, Kohichiro, Fukui, Michiaki, Akamizu, Takashi
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6626945/
https://ncbi.nlm.nih.gov/pubmed/30414308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jdi.12974
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