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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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Detaylı Bibliyografya
Asıl Yazarlar: Orren, Ann, O'Hara, Ann M, Morgan, B Paul, Moran, Anthony P, Würzner, Reinhard
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Blackwell Science Inc 2003
Konular:
Online Erişim: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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