A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism

Reyes Diaz, J. V., Jin, Y., Garber, K., Cossen, K. M., Li, Y., Jin, P., Li, H., & Ham, J. N. (2022). A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism. American Journal of Medical Genetics Part A, 188(8), 2429–2433. Portico. https://doi.org/10.1002/ajmg.a.62843
Authors:
Jacqueline V. Reyes Diaz
Yulin Jin
Kathryn Garber
Kristina M. Cossen
Yujing Li
Peng Jin
Hong Li
Jee-Young Nina Ham
Affiliated Authors:
Jee-Young Nina Ham
Author Keywords:
abcc8 gene
congenital hyperinsulinism
gene variant
hypoglycemia
k-atp channel
pancreatectomy
splicing
katp channel
k<sub>atp</sub> channel
Publication Type:
Article
Unique ID:
10.1002/ajmg.a.62843
PMID:
Publication Date:
Data Source:
Scopus

Record Created: