An abnormal but functionally active complement component C9 protein found in an Irish family with subtotal C9 deficiency

Two independently segregating C9 genetic defects have previously been reported in two siblings in an Irish family with subtotal C9 deficiency. One defect would lead to an abnormal C9 protein, with replacement of a cysteine by a glycine (C98G). The second defect is a premature stop codon at amino aci...

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Autores principales: Orren, Ann, O'Hara, Ann M, Morgan, B Paul, Moran, Anthony P, Würzner, Reinhard
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Science Inc 2003
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1782909/
https://ncbi.nlm.nih.gov/pubmed/12603605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1046/j.1365-2567.2003.01587.x
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