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Discovery of single-gene inborn errors of immunity by next generation sequencing
Many patients with clinical and laboratory evidence of primary immunodeficiency do not have a gene specific diagnosis. The use of next generation sequencing, particularly whole exome sequencing, has given us an extraordinarily powerful tool to identify the disease-causing genes in some of these pati...
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| Autores principales: | , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4198453/ https://ncbi.nlm.nih.gov/pubmed/24886697 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.coi.2014.05.004 |
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