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Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia Human Mutation 34

Article first published online: 2 APR 2013 | DOI: 10.1002/humu.22279

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Frequency and distribution of human hepatocyte nuclear factor 1-alpha (HNF1A) mutations by mutation type within the promoter, 10 exons, and splice sites of the gene. The functional domains of the HNF1A protein are shown; the numbers in boxes refer to the exons. The symbols denote ● missense, ▲ frameshift, ▪ nonsense, ♦ splicing, and * promoter mutations. The four partial and one whole gene deletion of HNF1A are represented by the shaded bars. Please refer to Supp. Table S1 for approved cDNA and protein level mutation names.

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