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NK cell defects in X-linked pigmentary reticulate disorder
X-linked reticulate pigmentary disorder (XLPDR, Mendelian Inheritance in Man #301220) is a rare syndrome characterized by recurrent infections and sterile multiorgan inflammation. The syndrome is caused by an intronic mutation in POLA1, the gene encoding the catalytic subunit of DNA polymerase-α (Po...
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| Опубликовано в: : | JCI Insight |
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| Главные авторы: | , , , , , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Clinical Investigation
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6948767/ https://ncbi.nlm.nih.gov/pubmed/31672938 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.125688 |
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