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Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

dc.contributor.authorEllard, Sian
dc.contributor.authorLango Allen, H
dc.contributor.authorDe Franco, E
dc.contributor.authorFlanagan, SE
dc.contributor.authorHysenaj, G
dc.contributor.authorColclough, K
dc.contributor.authorHoughton, JA
dc.contributor.authorShepherd, Maggie H.
dc.contributor.authorHattersley, Andrew T.
dc.contributor.authorWeedon, Michael N.
dc.contributor.authorCaswell, Richard
dc.date.accessioned2013-12-09T11:24:43Z
dc.date.issued2013-09
dc.description.abstractCurrent genetic tests for diagnosing monogenic diabetes rely on selection of the appropriate gene for analysis according to the patient's phenotype. Next-generation sequencing enables the simultaneous analysis of multiple genes in a single test. Our aim was to develop a targeted next-generation sequencing assay to detect mutations in all known MODY and neonatal diabetes genes.en_GB
dc.identifier.citationDiabetologia, 2013, Vol. 56, Issue 9, pp. 1958 - 1963en_GB
dc.identifier.doi10.1007/s00125-013-2962-5
dc.identifier.urihttp://hdl.handle.net/10871/14208
dc.language.isoenen_GB
dc.publisherSpringer Verlagen_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/23771172en_GB
dc.relation.urlhttp://link.springer.com/article/10.1007%2Fs00125-013-2962-5en_GB
dc.titleImproved genetic testing for monogenic diabetes using targeted next-generation sequencingen_GB
dc.typeArticleen_GB
dc.date.available2013-12-09T11:24:43Z
dc.identifier.issn0012-186X
exeter.place-of-publicationGermany
dc.descriptionaddresses: Institute for Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter EX2 5DW, UK. sian.ellard@nhs.neten_GB
dc.descriptionnotes: PMCID: PMC3737433en_GB
dc.descriptiontypes: Journal Article; Research Support, Non-U.S. Gov'ten_GB
dc.descriptionOpen Access Articleen_GB
dc.identifier.journalDiabetologiaen_GB


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