First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.
First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.
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厄瓜多尔首例 CD40LG 缺乏症,对一名严重皮肤组织胞浆菌病患者进行全外显子组测序后确诊。
DOI:
10.3389/fped.2017.00017
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发表时间:
2017
影响因子:
2.6
通讯作者:
Orange,JordanS
中科院分区:
文献类型:
--
作者:
Pedroza,LuisAlberto;Guerrero,Nina;Stray-Pedersen,Asbjørg;Tafur,Cristina;Macias,Roque;Muñoz,Greta;Akdemir,ZeynepCoban;Jhangiani,ShaliniN;Watkin,LeviB;Chinn,IvanK;Lupski,JamesR;Orange,JordanS