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Article

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

Diabetes research and clinical practice - 1 Jan 2018

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

Abstract excerpt

AIMS: The aim of this study was to clarify the genetic background of a family with multiple cases of diabetes accompanied by absolute insulin deficiency using whole-exome sequencing (WES). METHODS: In a Japanese family, WES was performed in four affected members with absolute insulin deficiency and two unaffected members. We focused on variants that were predicted to be disease-causing by bioinformatics and were...

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Identifiers

PMID: 29162515
DOI: 10.1016/j.diabres.2017.11.012

Genes

ADAMTSL3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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