Exon skipping caused by a complex structural variation in SH2D1A resulted in X‐linked lymphoproliferative syndrome type 1

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 phenotype...

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Detalles Bibliográficos
Autores principales: Wu, Liwen, Yang, Feng, Wang, Jia, Yang, Fan, Liang, Mengmeng, Yang, Haiyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922962/
https://www.ncbi.nlm.nih.gov/pubmed/35092357
http://dx.doi.org/10.1002/mgg3.1873

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