Identification and Functional Characterization of P159L Mutation in in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)

Identification and Functional Characterization of P159L Mutation in 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....

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Bibliographic Details
Main Authors: Eun Ky Kim, Ji Seon Lee, Hae Il Cheong, Sung Soo Chung, Soo Heon Kwak, Kyong Soo Park
Format: Article
Language:English
Published: BioMed Central 2014-12-01
Series:Genomics & Informatics
Subjects:
glucose transporter type 2
hepatocyte nuclear factor-1β
point mutation
type 2 diabetes mellitus
Online Access:http://genominfo.org/upload/pdf/gni-12-240.pdf
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