Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

Whole exome sequencing was used to determine the causative gene in patients with B cell defects of unknown etiology. A homozygous premature stop codon in exon 6 of PIK3R1 was identified in a young woman with colitis and absent B cells. The mutation results in the absence of p85α but normal expressio...

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Detalhes bibliográficos
Main Authors: Conley, Mary Ellen, Dobbs, A. Kerry, Quintana, Anita M., Bosompem, Amma, Wang, Yong-Dong, Coustan-Smith, Elaine, Smith, Amber M., Perez, Elena E., Murray, Peter J.
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2012
Assuntos:
Brief Definitive Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3302225/
https://ncbi.nlm.nih.gov/pubmed/22351933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20112533
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