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Deficiency of Adenosine Deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance
PURPOSE: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that manifests with fever, early-onset vasculitis, strokes, and hematologic dysfunction. This study aimed to identify disease-causing variants by conventional Sanger and whole exome sequencing in two families sus...
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| I publikationen: | J Clin Immunol |
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| Huvudupphovsmän: | , , , , , , , , , , , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2020
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7416912/ https://ncbi.nlm.nih.gov/pubmed/32638197 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-020-00817-3 |
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