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

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

Abstract Background and Aims: 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 anaemia and his family members were recruited to analyse the...

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Bibliographic Details
Main Authors: Yang Wang, Tao Liu, Jiaqi Liu, Yan Xiang, Lan Huang, Jiacheng Li, Xizhou An, Shengyan Cui, Zishuai Feng, Jie Yu
Format: Article
Language:English
Published: BMC 2023-07-01
Series:BMC Medical Genomics
Subjects:
Glucose phosphate isomerase deficiency
Splicing mutation
Missense mutation
Minigene
Haemolytic anaemia
Online Access:https://doi.org/10.1186/s12920-023-01603-x

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