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New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistentl...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655804/ https://www.ncbi.nlm.nih.gov/pubmed/26613026 http://dx.doi.org/10.1093/ckj/sfv102 |