Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family
综合遗传筛查在青少年发病的成年型糖尿病(MODY)患者中的临床应用价值:在既往筛查过的一个家族中找到了一个新的ABCC8突变
Stephanie R. Johnson
Department of Endocrinology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia
University of Queensland Diamantina Institute, Brisbane, Queensland, Australia
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia
Search for more papers by this authorPaul Leo
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia
Search for more papers by this authorLouise S. Conwell
Department of Endocrinology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
Search for more papers by this authorMark Harris
Department of Endocrinology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia
University of Queensland Diamantina Institute, Brisbane, Queensland, Australia
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
Search for more papers by this authorMatthew A. Brown
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia
Search for more papers by this authorCorresponding Author
Emma L. Duncan
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia
Department of Endocrinology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
Correspondence
Emma L. Duncan, Department of Endocrinology, Royal Brisbane and Women's Hospital, Butterfield Street, Herston, Qld 4029, Australia.
Tel: +61 7 3646 8111
Fax: +61 7 3646 7809
Email: [email protected]
Search for more papers by this authorStephanie R. Johnson
Department of Endocrinology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia
University of Queensland Diamantina Institute, Brisbane, Queensland, Australia
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia
Search for more papers by this authorPaul Leo
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia
Search for more papers by this authorLouise S. Conwell
Department of Endocrinology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
Search for more papers by this authorMark Harris
Department of Endocrinology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia
University of Queensland Diamantina Institute, Brisbane, Queensland, Australia
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
Search for more papers by this authorMatthew A. Brown
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia
Search for more papers by this authorCorresponding Author
Emma L. Duncan
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia
Department of Endocrinology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
Correspondence
Emma L. Duncan, Department of Endocrinology, Royal Brisbane and Women's Hospital, Butterfield Street, Herston, Qld 4029, Australia.
Tel: +61 7 3646 8111
Fax: +61 7 3646 7809
Email: [email protected]
Search for more papers by this author
References
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