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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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Detalhes bibliográficos
Main Authors: Conley, Mary Ellen, Casanova, Jean-Laurent
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha: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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