Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.

2.50
Hdl Handle:
http://hdl.handle.net/11287/619267
Title:
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
Authors:
Ellard, Sian ( 0000-0002-7620-5526 ) ; Thomas, K.; Edghill, E. L.; Owens, M.; Ambye, L.; Cropper, J.; Little, J.; Strachan, M.; Stride, A.; Ersoy, B.; Eiberg, H.; Pedersen, O.; Shepherd, Maggie ( 0000-0003-2660-0955 ) ; Hansen, T.; Harries, L. W.; Hattersley, Andrew T.
Abstract:
Heterozygous mutations of glucokinase (GCK) and hepatocyte nuclear factor-1 alpha (HNF1A; also known as hepatic transcription factor 1 [TCF1]) genes are the most common cause of MODY. Genomic deletions of the HNF1B (also known as TCF2) gene have recently been shown to account for one third of mutations causing renal cysts and diabetes syndrome. We investigated the prevalence of partial and whole gene deletions in UK patients meeting clinical criteria for GCK or HNF-1alpha/-4alpha MODY and in whom no mutation had been identified by sequence analysis.
Citation:
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. 2007, 50 (11):2313-7 Diabetologia
Publisher:
Springer
Journal:
Diabetologia
Issue Date:
Nov-2007
URI:
http://hdl.handle.net/11287/619267
DOI:
10.1007/s00125-007-0798-6
PubMed ID:
17828387
Additional Links:
http://link.springer.com/article/10.1007%2Fs00125-007-0798-6
Note:
This article is freely available via Open Access. Click on the ‘Additional Link’ above to access the full-text from the publisher’s site.
Type:
Research Support, Non-U.S. Gov't
Language:
en
ISSN:
0012-186X
Appears in Collections:
pre-2014 RD&E publications; Diabetes/Endocrine Services

Full metadata record

DC FieldValue Language
dc.contributor.authorEllard, Sianen
dc.contributor.authorThomas, K.en
dc.contributor.authorEdghill, E. L.en
dc.contributor.authorOwens, M.en
dc.contributor.authorAmbye, L.en
dc.contributor.authorCropper, J.en
dc.contributor.authorLittle, J.en
dc.contributor.authorStrachan, M.en
dc.contributor.authorStride, A.en
dc.contributor.authorErsoy, B.en
dc.contributor.authorEiberg, H.en
dc.contributor.authorPedersen, O.en
dc.contributor.authorShepherd, Maggieen
dc.contributor.authorHansen, T.en
dc.contributor.authorHarries, L. W.en
dc.contributor.authorHattersley, Andrew T.en
dc.date.accessioned2016-09-02T09:33:57Z-
dc.date.available2016-09-02T09:33:57Z-
dc.date.issued2007-11-
dc.identifier.citationPartial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. 2007, 50 (11):2313-7 Diabetologiaen
dc.identifier.issn0012-186X-
dc.identifier.pmid17828387-
dc.identifier.doi10.1007/s00125-007-0798-6-
dc.identifier.urihttp://hdl.handle.net/11287/619267-
dc.description.abstractHeterozygous mutations of glucokinase (GCK) and hepatocyte nuclear factor-1 alpha (HNF1A; also known as hepatic transcription factor 1 [TCF1]) genes are the most common cause of MODY. Genomic deletions of the HNF1B (also known as TCF2) gene have recently been shown to account for one third of mutations causing renal cysts and diabetes syndrome. We investigated the prevalence of partial and whole gene deletions in UK patients meeting clinical criteria for GCK or HNF-1alpha/-4alpha MODY and in whom no mutation had been identified by sequence analysis.en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttp://link.springer.com/article/10.1007%2Fs00125-007-0798-6en
dc.rightsArchived with thanks to Diabetologiaen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titlePartial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.en
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalDiabetologiaen
dc.description.noteThis article is freely available via Open Access. Click on the ‘Additional Link’ above to access the full-text from the publisher’s site.en
dc.type.versionPublisheden

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