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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226981/
https://www.ncbi.nlm.nih.gov/pubmed/27807805
http://dx.doi.org/10.1007/s10875-016-0343-9

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