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.
Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype / Cappelli, A; Tumini, S; Consoli, A; Carinci, S; Piersanti, C; Ruggiero, Giuseppina; Simonella, G; Soletti, F; Staffolani, P; Pianese, L.. - In: DIABETES RESEARCH AND CLINICAL PRACTICE. - ISSN 0168-8227. - STAMPA. - 83:3(2009), pp. 72-74.
Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype
RUGGIERO, GIUSEPPINA;
2009
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
