Open AccessPotential pathogenic mechanism of type 1 X-linked lymphoproliferative syndrome caused by a mutation of SH2D1A gene in an infant: A case report
Author(s) -
Yanchun Wang,
Yan Wang,
Weimin Liu,
Lvyan Tao,
Yang Xiao,
Yifan Zhou,
Xiaoli He,
Yu Zhang,
Li Li
Publication year - 2022
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000030951
Subject(s) - missense mutation , medicine , mutation , proband , genetics , mutant , sanger sequencing , exome sequencing , pi3k/akt/mtor pathway , gene , cancer research , signal transduction , biology