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Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report

BACKGROUND: X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been identified in SH2D1A, located on chromosome Xq25. CASE PRESENTATION: We report a cas...

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Detalles Bibliográficos
Autores principales:	Lyu, Xiaodong, Guo, Zhen, Li, Yangwei, Fan, Ruihua, Song, Yongping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897942/ https://www.ncbi.nlm.nih.gov/pubmed/29649976 http://dx.doi.org/10.1186/s12881-018-0576-y

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