Exon skipping caused by a complex structural variation in SH2D1A resulted in X‐linked lymphoproliferative syndrome type 1
Author:
Affiliation:
1. Department of Neurology Hunan Children 's Hospital Changsha P.R. China
2. Cipher Gene LLC Beijing China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1873
Reference19 articles.
1. Hemophagocytic lymphohistiocytosis due to germline mutations inSH2D1A, the X-linked lymphoproliferative disease gene
2. Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases
3. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
4. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
5. A Unique Clinical Presentation of X-Linked Lymphoproliferative Syndrome With a Novel Mutation in SH2D1A and Review of the Literature
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