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E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1

Yanping Wang, Xuemei Chen, Qiuyun Yang, Wenjing Tang, Yanjun Jia, Lina Zhou, Yunfei An, Zhiyong Zhang, Xuemei Tang, Xiaodong Zhao

2020Journal of Clinical Immunology34 citationsDOI

Topics & Concepts

Uniparental disomyAlleleMutationCompound heterozygosityBiologyGeneticsExome sequencingImmunologyMolecular biologyMedicineChromosomeGeneKaryotypeImmunodeficiency and Autoimmune DisordersCystic Fibrosis Research AdvancesChronic Lymphocytic Leukemia Research
E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1 | Litcius