Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism

ABCC8 encodes a subunit of the β-cell potassium channel (K(ATP)) whose loss of function is responsible for congenital hyperinsulinism (CHI). Patients with two recessive mutations of ABCC8 typically have severe diffuse forms of CHI unresponsive to diazoxide. Some dominant ABCC8 mutations are responsi...

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Vydáno v:Clin Genet
Hlavní autoři: Saint-Martin, Cécile, Zhou, Qing, Martin, Gregory M., Vaury, Christelle, Leroy, Gwendoline, Arnoux, Jean-Baptiste, de Lonlay, Pascale, Shyng, Show-Ling, Bellanné-Chantelot, Christine
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4229485/
https://ncbi.nlm.nih.gov/pubmed/24814349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12428
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