Article
[Analysis of genetic variants in four children with congenital hyperinsulinemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2021
Lin Li, Shen Fei, Yang Qi, Yi Shang, Qin Zailong, Zhang Qiang, Luo Jingsi, Gao Xiaoyan, He Sheng
Abstract excerpt
OBJECTIVE: To explore the genetic basis of four children with congenital hyperinsulinemia (CHI). METHODS: The four children were subjected to high-throughput whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing. RESULTS: WES analysis has identified 4 variants in the ABCC8 gene and 1 variant in GLUD1, including a ABCC8 c.382G>A variant in case 1, compound heterozygous c.698T>C and...
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