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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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| Päätekijät: | , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Blackwell Science Inc
2003
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| Aiheet: | |
| Linkit: | 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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