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Updated: Jul 4, 2025

Radiolabeling and Quantification of Cellular Levels of Phosphoinositides by High Performance Liquid Chromatography-coupled Flow Scintillation
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Published on: January 6, 2016

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由PIK3CD突变引起的活性酸3-酶δ综合征:扩大表型

Peiwei Zhao1, Juan Huang2, Huicong Fu3

  • 1Precision Medical Center, Tongji Medical College, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital, Huazhong University of Science & Technology, Wuhan, 430016, China.

Pediatric rheumatology online journal
|January 30, 2024
PubMed
概括

激活的酸3-酶三角酶 (PI3Kδ) 综合征1型 (APDS1) 是一种罕见的免疫缺陷,由PIK3CD突变引起. 整体外体序列测定发现了新的PIK3CD变异,并扩展了APDS1的临床表现,帮助诊断.

关键词:
与ANCA相关的血管炎激活的酸3-酶δ综合征免疫缺陷是一种免疫缺陷.这是一个PIK3CDCD.现象型 现象型 是一种表现型.

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