Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n)

Properdin deficiency was demonstrated in three generations of a large Swiss family. The concentration of circulating properdin in affected males was < 0.1 mg/l, indicating properdin deficiency type I. Two of the nine properdin-deficient males in the family had survived meningitis caused by Neisse...

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Autores principales: Späth, P J, Sjöholm, A G, Nordin Fredrikson, G, Misiano, G, Scherz, R, Schaad, U B, Uhring-Lambert, B, Hauptmann, G, Westberg, J, Uhlén, M, Wadelius, C, Truedsson, L
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Science Inc 1999
Materias:
Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1905431/
https://ncbi.nlm.nih.gov/pubmed/10540191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1046/j.1365-2249.1999.01056.x
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