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Maturity-Onset Diabetes of the Young (MODY) caused by a novel nonsense mutation E41X in the HNF-1α gene

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The most common cause of Maturity-Onset Diabetes of the Young (MODY) are mutations in the Hepatic Nuclear Factor 1α (HNF-1α) gene, resulting in MODY3. In a family afflicted with diabetes, a novel nonsense mutation in HNF-1α, E41X, causing a termination codon behind the dimerization domain, was found...

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Main Authors: Buchbinder, Susanne (Author) , Zorn, Markus (Author) , Bierhaus, A. (Author) , Nawroth, Peter Paul (Author) , Müller-Hennessen, Matthias (Author) , Schilling, Tobias (Author)
Format: Article (Journal)
Language:English
Published: 2011
In: Experimental and clinical endocrinology & diabetes
Year: 2011, Volume: 119, Issue: 3, Pages: 182-185
ISSN:1439-3646
DOI:10.1055/s-0030-1262816
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1055/s-0030-1262816
Verlag, lizenzpflichtig, Volltext: http://www.thieme-connect.de/DOI/DOI?10.1055/s-0030-1262816
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Author Notes:S. Buchbinder, M. Zorn, A. Bierhaus, P.P. Nawroth, M. Müller, T. Schilling
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