Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy.
10.1097/CM9.0000000000000027
- Author:
Peng-Peng LIU
1
;
Hu-Qing DING
2
;
Shen-Zhen HUANG
3
;
Sheng-Yong YANG
3
;
Ting LIU
1
Author Information
1. Department of Hematology, Hematologic Research Laboratory, West China Hospital of Sichuan University. Chengdu, Sichuan 610041, China.
2. Sichuan Hua Xi Kindstar Medical Diagnostic Centre, Chengdu, Sichuan 610000, China.
3. State Key Laboratory of Cancer Biotherapy, Sichuan University, Chengdu, Sichuan 610041, China.
- Publication Type:Case Reports
- MeSH:
Anemia, Hemolytic, Congenital;
etiology;
genetics;
Asian Continental Ancestry Group;
Humans;
Infant, Newborn;
Male;
Mutation;
genetics;
Pyruvate Kinase;
genetics
- From:
Chinese Medical Journal
2019;132(1):92-95
- CountryChina
- Language:English
