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Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

Abstract:

Monogenic human disorders have been used as paradigms for complex genetic disease and as tools for establishing important insights into mechanisms of gene regulation and transcriptional control. Maturity-onset diabetes of the young (MODY) is a monogenic dominantly inherited form of diabetes that is characterized by defective insulin secretion from the pancreatic beta-cells. A wide variety of mutation types in five different genes have been identified that result in this condition. There have ...

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Publisher copy:
10.2337/diabetes.51.7.2329

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
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Journal:
Diabetes
Volume:
51
Issue:
7
Pages:
2329-2333
Publication date:
2002-07-05
DOI:
EISSN:
1939-327X
ISSN:
0012-1797
URN:
uuid:9423f405-aec0-4a1e-9c09-4aa7c0d2be31
Source identifiers:
5618
Local pid:
pubs:5618

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