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Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome

Genetic studies have demonstrated the involvement of the complement regulator factor H in nondiarrheal, nonverocytotoxin (i.e., atypical) cases of hemolytic uremic syndrome. Different factor H mutations have been identified in 10%–30% of patients with atypical hemolytic uremic syndrome (aHUS), and m...

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Detalhes bibliográficos
Main Authors: Sánchez-Corral, Pilar, Pérez-Caballero, David, Huarte, Olatz, Simckes, Ari M., Goicoechea, Elena, López-Trascasa, Margarita, de Córdoba, Santiago Rodríguez
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC378565/
https://ncbi.nlm.nih.gov/pubmed/12424708
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