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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Clin Genet
Egile Nagusiak: Saint-Martin, Cécile, Zhou, Qing, Martin, Gregory M., Vaury, Christelle, Leroy, Gwendoline, Arnoux, Jean-Baptiste, de Lonlay, Pascale, Shyng, Show-Ling, Bellanné-Chantelot, Christine
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2014
Gaiak:
Article
Sarrera elektronikoa: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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