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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發表在: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
格式: Artigo
語言:Inglês
出版: Springer US 2016
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Original Article
在線閱讀: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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