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...

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Argitaratua izan da:Clin Kidney J
Egile Nagusiak: Lopes, Daniela, Gomes, Ana Marta, Cunha, Cátia, Pinto, Catarina Silva, Fidalgo, Teresa, Fernandes, João Carlos
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2015
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Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4655804/
https://ncbi.nlm.nih.gov/pubmed/26613026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfv102
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