Article
A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype.
Diabetes research and clinical practice - 1 Apr 2011
Costantini Silvia, Prandini Paola, Corradi Massimiliano, Pasquali Alessandra, Contreas Giovanna, Pignatti Pier Franco, Pinelli Leonardo, Trabetti Elisabetta, Maffeis Claudio
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.