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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....

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Genomics Inform
Asıl Yazarlar: Kim, Eun Ky, Lee, Ji Seon, Cheong, Hae Il, Chung, Sung Soo, Kwak, Soo Heon, Park, Kyong Soo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Korea Genome Organization 2014
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4330261/
https://ncbi.nlm.nih.gov/pubmed/25705165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5808/GI.2014.12.4.240
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