A Splice Site Mutation Associated with Congenital CD59 Deficiency

Congenital CD59 deficiency is a recently described rare autosomal recessive disease associated with CD59 gene mutations that lead to deficient or dysfunctional CD59 protein on the cell surface. The disease is characterized by the early onset of chronic hemolysis, relapsing peripheral demyelinating n...

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Detalles Bibliográficos
Autores principales: Chai, Jiani N., Azad, Abul Kalam, Kuan, Kevin, Guo, Xiaoling, Wang, Yanhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222317/
https://www.ncbi.nlm.nih.gov/pubmed/35735736
http://dx.doi.org/10.3390/hematolrep14020025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222317/
https://www.ncbi.nlm.nih.gov/pubmed/35735736
http://dx.doi.org/10.3390/hematolrep14020025

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