Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

PURPOSE: We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV ca...

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Detalhes bibliográficos
Publicado no:J Clin Immunol
Main Authors: Engelhardt, Karin R., Xu, Yaobo, Grainger, Angela, Germani Batacchi, Mila G. C., Swan, David J., Willet, Joseph D. P., Abd Hamid, Intan J., Agyeman, Philipp, Barge, Dawn, Bibi, Shahnaz, Jenkins, Lucy, Flood, Terence J., Abinun, Mario, Slatter, Mary A., Gennery, Andrew R., Cant, Andrew J., Santibanez Koref, Mauro, Gilmour, Kimberly, Hambleton, Sophie
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2016
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5226981/
https://ncbi.nlm.nih.gov/pubmed/27807805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-016-0343-9
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