The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis

Glucose phosphate isomerase (GPI) deficiency is an extremely rare autosomal recessive disorder caused by mutations in the GPI gene. In this research, the proband displaying typical manifestations of haemolytic an...

Source: BMC Medical Genomics - July 10, 2023 Category: Genetics & Stem Cells Authors: Yang Wang, Tao Liu, Jiaqi Liu, Yan Xiang, Lan Huang, Jiacheng Li, Xizhou An, Shengyan Cui, Zishuai Feng and Jie Yu Tags: Research Source Type: research