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

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 pathogen...

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Detalles Bibliográficos
Autores principales: Wang, Yang, Liu, Tao, Liu, Jiaqi, Xiang, Yan, Huang, Lan, Li, Jiacheng, An, Xizhou, Cui, Shengyan, Feng, Zishuai, Yu, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10332073/
https://www.ncbi.nlm.nih.gov/pubmed/37430284
http://dx.doi.org/10.1186/s12920-023-01603-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10332073/
https://www.ncbi.nlm.nih.gov/pubmed/37430284
http://dx.doi.org/10.1186/s12920-023-01603-x

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