Identification and Functional Characterization of P159L Mutation inHNF1Bin a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)
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Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)
Mutation in HNF1B, the hepatocyte nuclear factor-1β (HNF-1β) gene, results in maturity-onset diabetes of the young (MODY) 5, which is characterized by gradual impairment of insulin secretion. However, the functional role of HNF-1β in insulin secretion and glucose metabolism is not fully understood. We identified a family with early-onset diabetes that fulfilled the criteria of MODY. Sanger sequ...
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Maturity-onset diabetes of the young (MODY) is both a genetically and clinically heterozygous type of diabetes mellitus characterized by early onset (often before 25 yr of age) and absence of pancreatic β-cell autoimmunity markers (1). To date, mutations in several distinct genes have been implicated in MODY (1, 2). Among the different types of MODY, MODY5 is caused by mutations in the gene enc...
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ژورنال
عنوان ژورنال: Genomics & Informatics
سال: 2014
ISSN: 2234-0742
DOI: 10.5808/gi.2014.12.4.240