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Diabetes Genomics and Genetics
Hepatocyte nuclear factor-1-alpha gene mutation linked to diabetes
May 31st, 2004
Researchers have discovered a new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). According to recent research from Germany, "Mutations in the hepatocyte nuclear factor-1-alpha gene cause maturity onset diabetes of the young 3 (MODY 3). Here we describe a new family affected by this disorder carrying the so far unknown mutation Pro224Ser in exon 3. First we identified a 17-year-old patient. OGTT demonstrated that insulin secretion was severely impaired: basal insulin was 3.7 microU/mL and 60 minutes after an oral glucose load plasma insulin peaked only threefold to...
Source: Obesity & Diabetes Week (2004-05-31)
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