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Article

Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene.

Endokrynologia Polska - 1 Jan 2015

Hogendorf Anna, Kosińska-Urbańska Małgorzata, Borowiec Maciej, Antosik Karolina, Wyka Krystyna, Młynarski Wojciech

Abstract excerpt

INTRODUCTION: Hepatocyte transforming factor 1B-maturity onset diabetes mellitus of the young (HNF1B-MODY) is an autosomal dominant type of monogenic diabetes caused by a mutation in the gene encoding hepatocyte nuclear factor 1beta (HNF-1beta). The aim of this study was to determine if a HNF1B gene mutation was responsible for a dominantly inherited form of diabetes mellitus among the members of a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25754277
DOI: 10.5603/EP.2015.0004

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