Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification

Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy that can progress, when untreated, to end-stage renal disease. Most frequently, aHUS is caused by complement dysregulation due to pathogenic variants in genes that encode complement components and regulators....

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Detalles Bibliográficos
Autores principales: Martín Merinero, Hector, Zhang, Yuzhou, Arjona, Emilia, del Angel, Guillermo, Goodfellow, Renee, Gomez-Rubio, Elena, Ji, Rui-Ru, Michelena, Malkoa, Smith, Richard J. H., Rodríguez de Córdoba, Santiago
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2021
Materias:
Immunobiology and Immunotherapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8641096/
https://www.ncbi.nlm.nih.gov/pubmed/34189567
http://dx.doi.org/10.1182/blood.2021012037

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8641096/
https://www.ncbi.nlm.nih.gov/pubmed/34189567
http://dx.doi.org/10.1182/blood.2021012037

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