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Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey
Monogenic autoinflammatory disorders (AIDs) are rare diseases caused by variants in genes regulating the innate immune system. The identification of the first four genes responsible for the prototype group of hereditary recurrent fevers prompted the development of genetic diagnosis, followed by exte...
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| Udgivet i: | Eur J Hum Genet |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Springer International Publishing
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6777449/ https://ncbi.nlm.nih.gov/pubmed/31186541 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0439-9 |
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