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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

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

Translated title of the contributionClinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family
Original languageChinese (Traditional)
Pages (from-to)764-767
Number of pages4
JournalJournal of Diabetes
Volume10
Issue number9
DOIs
PublishedSep 2018

Bibliographical note

Funding Information: SRJ was supported by a University of Queensland research scholarship. MAB is supported by a National Health and Medical Research Council of Australia Senior Fellowship. The research was supported by a grant from the Australasian Pediatric Endocrine Care research grant, funded by Pfizer, and by the Royal Brisbane and Women’s Hospital Foundation. The authors thank the family, their treating clinicians, and the laboratory staff of the Brown Laboratory at Queensland University of Technology, in particular Sharon Song, Lisa Anderson, and Jessica Harris, for their assistance with MPS, Jessica Harris and Lawrie Wheeler for Sanger sequencing, and David Pennisi for help with the proofreading and editing of the manuscript. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.

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