Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing

被引：0
|
作者：
Sunita M. C. De Sousa
Kathy H. C. Wu
Kevin Colclough
Lesley Rawlings
Andrew Dubowsky
Melissa Monnik
Nicola Poplawski
Hamish S. Scott
Michael Horowitz
David J. Torpy
机构：
[1] Royal Adelaide Hospital,Endocrine and Metabolic Unit
[2] Royal Adelaide Hospital,Adult Genetics Unit
[3] University of Adelaide,Adelaide Medical School
[4] St Vincent’s Hospital,Clinical Genomics
[5] University of New South Wales,School of Medicine
[6] University of Sydney,Discipline of Genomic Medicine, Faculty of Medicine and Health
[7] University of Notre Dame,School of Medicine
[8] Royal Devon University Healthcare NHS Foundation Trust,Exeter Genomics Laboratory
[9] SA Pathology,Department of Genetics and Molecular Pathology
[10] The University of South Australia,Centre for Cancer Biology, an alliance between SA Pathology
来源：
Acta Diabetologica | 2024年 / 61卷
关键词：
Maturity-onset diabetes of the young; Monogenic diabetes; Mitochondrial diabetes; Next-generation sequencing; Genetic testing;
D O I：
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学科分类号：
摘要：
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页码：181 / 188
页数：7
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