Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Stephanie R. Johnson Paul Leo Louise S. Conwell Mark Harris Matthew A. Brown Emma L. Duncan

Affiliation:	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

Abstract:

Keywords:	maturity‐onset diabetes of the young ABCC8 hyperinsulinism whole exome sequencing massively parallel sequencing