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

• প্রধান লেখক: Xiaodong Lyu (লেখক), Zhen Guo (লেখক), Yangwei Li (লেখক), Ruihua Fan (লেখক), Yongping Song (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2018-04-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...