Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family

J Diabetes. 2018 Sep;10(9):764-767. doi: 10.1111/1753-0407.12778. Epub 2018 Jun 13.

Stephanie R Johnson^{1

2

3

4}, Paul Leo⁴, Louise S Conwell^{1

3}, Mark Harris^{1

2

3}, Matthew A Brown⁴, Emma L Duncan^{3

4

5}

¹ Department of Endocrinology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
² University of Queensland Diamantina Institute, Brisbane, Queensland, Australia.
³ Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.
⁴ Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia.
⁵ Department of Endocrinology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.

No abstract available

Keywords: ABCC8; hyperinsulinism; massively parallel sequencing; maturity-onset diabetes of the young; whole exome sequencing.

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