- 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 ...
Expand abstract - Publisher copy:
- 10.2337/diabetes.51.7.2329
-
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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
- Language:
- English
- Keywords:
- Copyright date:
- 2002
Journal article
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.
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