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Article

[MODY 3 correlations between the genotype and clinical manifestations of diabetes].

Recenti progressi in medicina - 1 Oct 2011

Simonella Graziano, Pianese Luigi, Vichi Giovanna, Staffolani Paolo, Morosini Pierpaolo

Abstract excerpt

We analyzed the mutations identified in a family affected by Maturity-Onset Diabetes of the Young (MODY3), and searched for correlations between the genotype and clinical manifestations of diabetes. In 4 of 9 subjects we have demonstrated a heterozygous missense mutation in hepatocyte nuclear factor 1 alfa (HNF1α). The missense mutation, caused by a G>A transition at nucleotide 815 of exon 4 (c.815G>A), resulted...

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PMID: 21989397
DOI: 10.1701/955.10452

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