The Diabetic Phenotype in HNF4A Mutation Carriers Is Moderated By the Expression of HNF4A Isoforms From the P1 Promoter During Fetal Development

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The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.

OBJECTIVE Mutations in the alternatively spliced HNF4A gene cause maturity-onset diabetes of the young (MODY). We characterized the spatial and developmental expression patterns of HNF4A transcripts in human tissues and investigated their role as potential moderators of the MODY phenotype. RESEARCH DESIGN AND METHODS We measured the expression of HNF4A isoforms in human adult tissues and gest...

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ژورنال

عنوان ژورنال: Diabetes

سال: 2008

ISSN: 0012-1797,1939-327X

DOI: 10.2337/db07-1742