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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Clin Genet
Päätekijät: Saint-Martin, Cécile, Zhou, Qing, Martin, Gregory M., Vaury, Christelle, Leroy, Gwendoline, Arnoux, Jean-Baptiste, de Lonlay, Pascale, Shyng, Show-Ling, Bellanné-Chantelot, Christine
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2014
Aiheet:
Article
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia