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A novel mutation W388X underlying properdin deficiency in a Finnish family

Properdin deficiency is a rare immunological disorder inherited as an X-chromosomal recessive trait. Properdin deficiency poses a significant risk for severe meningococcal infections. About 20 mutations have been reported to underlie properdin deficiency. Here we report a large Finnish family with a...

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Detalhes bibliográficos
Main Authors: Helminen, Merja, Seitsonen, Sanna, Jarva, Hanna, Meri, Seppo, Järvelä, Irma E
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306489/
https://ncbi.nlm.nih.gov/pubmed/22229731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-3083.2012.02674.x
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