Article
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Diabetologia - 1 Sept 2013
Ellard S, Lango Allen H, De Franco E, Flanagan S E, Hysenaj G, Colclough K, Houghton J A L, Shepherd M, Hattersley A T, Weedon M N, Caswell R
Abstract excerpt
AIMS/HYPOTHESIS: Current 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. METHODS: We...
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