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Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Abstract:

Maturity-onset diabetes of the young (MODY) resulting from mutations in the glucokinase (GCK) gene accounts for approximately 20% of MODY in the UK. We have performed fluorescent single stranded conformation polymorphism (F-SSCP) analysis or direct sequencing of the GCK gene in 212 patients referred as part of a research cohort or for diagnostic molecular genetic testing. Mutation screening has identified 43 different mutations in 61 individuals, of which 21 are novel. This report details the...

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Publication status:
Published

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Publisher copy:
10.1002/humu.9186

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
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Journal:
Human mutation
Volume:
22
Issue:
5
Pages:
417
Publication date:
2003-11-01
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
Source identifiers:
9603
Language:
English
Keywords:
Pubs id:
pubs:9603
UUID:
uuid:56e7e990-0762-4a74-9fbd-631551063ad4
Local pid:
pubs:9603
Deposit date:
2012-12-19

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