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....

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Detalles Bibliográficos
Autores principales: Casanova, Jean-Laurent, Conley, Mary Ellen, Seligman, Stephen J., Abel, Laurent, Notarangelo, Luigi D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2014
Materias:
Perspective
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

Internet

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

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