Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5900271 | Diabetes Research and Clinical Practice | 2011 | 4 Pages |
Abstract
GCK gene analysis in an Italian MODY patient revealed a novel synonymous substitution in exon 4 (c.459T>G; p.Pro153Pro) resulting in an aberrant transcript lacking the last eight codons of the same exon. Our findings emphazise the importance of not underestimating synonymous variations when screening for disease-causing mutations.
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Authors
Silvia Costantini, Paola Prandini, Massimiliano Corradi, Alessandra Pasquali, Giovanna Contreas, Pier Franco Pignatti, Leonardo Pinelli, Elisabetta Trabetti, Claudio Maffeis,