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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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Main Authors: | , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2012
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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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