Exon skipping caused by a complex structural variation in SH2D1A resulted in X‐linked lymphoproliferative syndrome type 1
Abstract Background X‐linked lymphoproliferative syndrome type 1 (XLP1) is a rare primary immunodeficiency disorder characterized by severe immune dysregulation often after viral infection. It is caused by hemizygous mutations in the X‐linked SH2D1A gene. People with XLP1 have complex and variable p...
| Main Authors: | , , , , , |
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| 格式: | 文件 |
| 语言: | English |
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Wiley
2022-03-01
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| 丛编: | Molecular Genetics & Genomic Medicine |
| 主题: | |
| 在线阅读: | https://doi.org/10.1002/mgg3.1873 |