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Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
Can genetic and clinical findings made in a single patient be considered sufficient to establish a causal relationship between genotype and phenotype? We report that up to 49 of the 232 monogenic etiologies (21%) of human primary immunodeficiencies (PIDs) were initially reported in single patients....
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203950/ https://www.ncbi.nlm.nih.gov/pubmed/25311508 http://dx.doi.org/10.1084/jem.20140520 |