Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00125-006-0158-y.pdf
Reference10 articles.
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2. Shih DQ, Dansky HM, Fleisher M et al (2000) Genotype/phenotype relationships in HNF-4α/MODY1 haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein (a), and triglyceride levels. Diabetes 49:832–837
3. Lehto M, Bitzén P, Isomaa B et al (1999) Mutation in the HNF-4α gene affects insulin secretion and triglyceride metabolism. Diabetes 48:423–425
4. Pearson ER, Pruhova S, Tack CJ et al (2005) Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection. Diabetologia 48:878–885
5. Lindner T, Gragnoli C, Furuta H et al (1997) Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4α/MODY1 gene. J Clin Invest 100:1400–1405
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