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Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis
Missense mutations in perforin, a critical effector of lymphocyte cytotoxicity, lead to a spectrum of diseases, from familial hemophagocytic lymphohistiocytosis to an increased risk of tumorigenesis. Understanding of the impact of mutations has been limited by an inability to express human perforin...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Clinical Investigation
2006
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1319223/ https://ncbi.nlm.nih.gov/pubmed/16374518 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI26217 |
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