Article
Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.
Diabetes research and clinical practice - 1 Mar 2009
Cappelli Alessia, Tumini Stefano, Consoli Agostino, Carinci Silvia, Piersanti Concettina, Ruggiero Giuseppina, Simonella Graziano, Soletti Filippo, Staffolani Paolo, Pianese Luigi
Abstract excerpt
Analysis of GCK and HNF1A genes in 32 MODY families identified three novel mutations: the missense mutation G170D and the deletion/insertion P432Xfs in GCK and the splicing mutation IVS4nt-1G>T, in HNF1A. For IVS4nt-1G>T the sequence analysis of RT-PCR products demonstrated exon skipping with the use of a cryptic splicing site.
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