Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus

AIMS/INTRODUCTION: The adenosine triphosphate (ATP)‐sensitive potassium (K(ATP)) channel is a key component of insulin secretion in pancreatic β‐cells. Activating mutations in ABCC8 encoding for the sulfonylurea receptor subunit of the K(ATP) channel have been associated with the development of neon...

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Auteurs principaux: Takagi, Tomoyuki, Furuta, Hiroto, Miyawaki, Masakazu, Nagashima, Kazuaki, Shimada, Takeshi, Doi, Asako, Matsuno, Shohei, Tanaka, Daisuke, Nishi, Masahiro, Sasaki, Hideyuki, Inagaki, Nobuya, Yoshikawa, Norishige, Nanjo, Kishio, Akamizu, Takashi
Format: Artigo
Langue:Inglês
Publié: Wiley-Blackwell 2013
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4015663/
https://ncbi.nlm.nih.gov/pubmed/24843665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jdi.12049
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