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

• Päätekijät: Xiaodong Lyu (Tekijä), Zhen Guo (Tekijä), Yangwei Li (Tekijä), Ruihua Fan (Tekijä), Yongping Song (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2018-04-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Abstract 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 repor...