Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

ABCC8 encodes the SUR1 subunit of the β-cell ATP-sensitive potassium channel whose loss of function causes congenital hyperinsulinism (CHI). Molecular diagnosis is critical for optimal management of CHI patients. Unfortunately, assessing the impact of ABCC8 variants on RNA splicing remains very chal...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: Saint-Martin, Cécile, Cauchois-Le Mière, Marine, Rex, Emily, Soukarieh, Omar, Arnoux, Jean-Baptiste, Buratti, Julien, Bouvet, Delphine, Frébourg, Thierry, Gaildrat, Pascaline, Shyng, Show-Ling, Bellanné-Chantelot, Christine, Martins, Alexandra
Format: Artigo
Langue:Inglês
Publié: 2021
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8049974/
https://ncbi.nlm.nih.gov/pubmed/33410562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24164
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires