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...

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Vydáno v:Hum Mutat
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2021
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Article
On-line přístup: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
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