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High frequency of mutations in the HNF-1α gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance

✍ Scribed by N., Tonooka; Y., Takahashi; K., Onigata; N., Kikuchi; Y., Horikawa; M., Mori; J., Takeda; H., Tomura


Book ID
113017636
Publisher
Springer
Year
2002
Tongue
English
Weight
141 KB
Volume
45
Category
Article
ISSN
0012-186X

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Analysis of a non-functional HNF-1α (TCF
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Mutations in the transcription factor hepatocyte nuclear factor-1a (HNF-1a; gene symbol TCF1) cause maturity-onset diabetes of the young type 3 (MODY3), a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and pancreatic b-cell dysfunction. Recent genetic studies