Associated Papers
Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.
Tóth B et al.
Journal of Clinical Immunology, 2015
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.
Overwater E et al.
European Journal of Pediatrics, 2014
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.
Recher M et al.
Clinical Immunology (orlando, Fla.), 2013
Select a paper to view details