Update of variants identified in the pancreatic β‐cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP‐sensitive potassium channel, a key component of the glucose‐stimulated insulin secretion pathway. Mutations in the two genes cause dysr...

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發表在:Hum Mutat
Main Authors: De Franco, Elisa, Saint‐Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E., Aguilar‐Bryan, Lydia, Bowman, Pamela, Arnoux, Jean‐Baptiste, Larsen, Annette Rønholt, Sanyoura, May, Greeley, Siri Atma W., Calzada‐León, Raúl, Harman, Bradley, Houghton, Jayne A. L., Nishimura‐Meguro, Elisa, Laver, Thomas W., Ellard, Sian, del Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné‐Chantelot, Christine, Flanagan, Sarah E.
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2020
主題:
Mutation Update
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7187370/
https://ncbi.nlm.nih.gov/pubmed/32027066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23995
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