A novel compound heterozygous mutation in DGKE in a Chinese patient causes atypical hemolytic uremic syndrome

Autor:	Jitong Li, Hongjiang Li, Guanghai Cao, Cuihua Liu, Di Li, Yaodong Zhang, Ming Tian, Yinsen Song, Shufeng Zhang
Rok vydání:	2020
Předmět:	Mutation business.industry food and beverages Hematology urologic and male genital diseases medicine.disease Compound heterozygosity medicine.disease_cause Hemolysis 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases 030220 oncology & carcinogenesis Atypical hemolytic uremic syndrome Immunology medicine In patient Thrombus business 030215 immunology
Zdroj:	Hematology. 25:101-107
ISSN:	1607-8454
DOI:	10.1080/16078454.2020.1731969
Popis:	Objectives: DGKE mutations can lead to hemolysis and thrombus in patients with atypical hemolytic uremic syndrome (aHUS). However, the sequence variants of DGKE in Chinese patients with aHUS have n...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::73f60a90bef53b8c92847b4a2a4b0bca https://doi.org/10.1080/16078454.2020.1731969 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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