HNF1B deletions in patients with young-onset diabetes but no known renal disease.

2.50
Hdl Handle:
http://hdl.handle.net/11287/619212
Title:
HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Authors:
Edghill, E. L.; Stals, K.; Oram, Richard A.; Shepherd, Maggie ( 0000-0003-2660-0955 ) ; Hattersley, Andrew T.; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
Hepatocyte nuclear factor 1β (HNF1B) mutations cause a syndrome of renal cysts and diabetes, with whole gene deletions accounting for approximately 50% of cases. The severity of the renal phenotype is variable, from enlarged cystic kidneys incompatible with life to normal renal development and function. We investigated the prevalence of HNF1B deletions in patients with diabetes but no known renal disease.
Citation:
HNF1B deletions in patients with young-onset diabetes but no known renal disease. 2013, 30 (1):114-7 Diabet. Med.
Publisher:
Wiley
Journal:
Diabetic medicine : a journal of the British Diabetic Association
Issue Date:
Jan-2013
URI:
http://hdl.handle.net/11287/619212
DOI:
10.1111/j.1464-5491.2012.03709.x
PubMed ID:
22587559
Additional Links:
http://onlinelibrary.wiley.com/doi/10.1111/j.1464-5491.2012.03709.x/abstract?systemMessage=Wiley+Online+Library+will+be+unavailable+on+Saturday+3rd+September+2016+at+08.30+BST/+03:30+EDT/+15:30+SGT+for+5+hours+and+Sunday+4th+September+at+10:00+BST/+05:00+EST/+17:00+SGT+for+1+hour++for+essential+maintenance.+Apologies+for+the+inconvenience
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, N.I.H., Extramural
Language:
en
ISSN:
1464-5491
Appears in Collections:
pre-2014 RD&E publications; Diabetes/Endocrine Services

Full metadata record

DC FieldValue Language
dc.contributor.authorEdghill, E. L.en
dc.contributor.authorStals, K.en
dc.contributor.authorOram, Richard A.en
dc.contributor.authorShepherd, Maggieen
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorEllard, Sianen
dc.date.accessioned2016-09-01T12:44:48Z-
dc.date.available2016-09-01T12:44:48Z-
dc.date.issued2013-01-
dc.identifier.citationHNF1B deletions in patients with young-onset diabetes but no known renal disease. 2013, 30 (1):114-7 Diabet. Med.en
dc.identifier.issn1464-5491-
dc.identifier.pmid22587559-
dc.identifier.doi10.1111/j.1464-5491.2012.03709.x-
dc.identifier.urihttp://hdl.handle.net/11287/619212-
dc.description.abstractHepatocyte nuclear factor 1β (HNF1B) mutations cause a syndrome of renal cysts and diabetes, with whole gene deletions accounting for approximately 50% of cases. The severity of the renal phenotype is variable, from enlarged cystic kidneys incompatible with life to normal renal development and function. We investigated the prevalence of HNF1B deletions in patients with diabetes but no known renal disease.en
dc.language.isoenen
dc.publisherWileyen
dc.relation.urlhttp://onlinelibrary.wiley.com/doi/10.1111/j.1464-5491.2012.03709.x/abstract?systemMessage=Wiley+Online+Library+will+be+unavailable+on+Saturday+3rd+September+2016+at+08.30+BST/+03:30+EDT/+15:30+SGT+for+5+hours+and+Sunday+4th+September+at+10:00+BST/+05:00+EST/+17:00+SGT+for+1+hour++for+essential+maintenance.+Apologies+for+the+inconvenienceen
dc.rightsArchived with thanks to Diabetic medicine : a journal of the British Diabetic Associationen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleHNF1B deletions in patients with young-onset diabetes but no known renal disease.en
dc.typeResearch Support, N.I.H., Extramuralen
dc.identifier.journalDiabetic medicine : a journal of the British Diabetic Associationen
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.description.funding11/0004171/Diabetes UK/United Kingdom PDA/02/06/098/Department of Health/United Kingdomen
dc.type.versionPublisheden

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