[Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review].
作者信息
Li Y, Zhao X, Hu X R, Li J P, Xiong Y Z, Sun X X, Ye L, Yang Y, Li Y, Yang W R, Peng G X, Fan H H, Zhou K, Jing L P, Zhang F K, Zhang L
机构信息
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
Bozhou People's Hospital, Bozhou 236800, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2021 Aug 14;42(8):680-682. doi: 10.3760/cma.j.issn.0253-2727.2021.08.012.
Abstract
摘要
Zotero 插件