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

• Κύριοι συγγραφείς: Xiaodong Lyu (Συγγραφέας), Zhen Guo (Συγγραφέας), Yangwei Li (Συγγραφέας), Ruihua Fan (Συγγραφέας), Yongping Song (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2018-04-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...