| Literature DB >> 19150152 |
Alessia Cappelli1, Stefano Tumini, Agostino Consoli, Silvia Carinci, Concettina Piersanti, Giuseppina Ruggiero, Graziano Simonella, Filippo Soletti, Paolo Staffolani, Luigi Pianese.
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.Entities:
Mesh：
Substances：
Year: 2009 PMID： 19150152 DOI： 10.1016/j.diabres.2008.12.007
Source DB: PubMed Journal: Diabetes Res Clin Pract ISSN： 0168-8227 Impact factor: 5.602