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Monogenic diabetes in adults: what are the new developments?

Abstract:

Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic causes of beta-cell dysfunction and diabetes arising in children and young adults. Making an accurate diagnosis of MODY is important for establishing the correct management. Recent advances in our understanding of human sequence variation, through data collated in resources such as the Exome Aggregation Consortium have refined guidelines for assessment of rare genetic variants. This will allow a more precise aet...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.gde.2018.04.006

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
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Grant:
Oxford NIHR Biomedical Research Centre
European Foundation for the Study of Diabetes More from this funder
Diabetes UK More from this funder
Publisher:
Elsevier Publisher's website
Journal:
Current Opinion in Genetics and Development Journal website
Volume:
50
Pages:
103-110
Publication date:
2018-05-04
Acceptance date:
2018-04-19
DOI:
EISSN:
1879-0380
ISSN:
0959-437X
Pmid:
29734081
Language:
English
Pubs id:
pubs:852213
UUID:
uuid:0583497d-c390-4b47-848d-ad6aed770c5c
Local pid:
pubs:852213
Source identifiers:
852213
Deposit date:
2018-09-25

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