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Research Progress on Pathogenesis of Congenital Pure Red Cell Aplasia---Review / 中国实验血液学杂志
Journal of Experimental Hematology ; (6): 1654-1657, 2021.
Article in Chinese | WPRIM | ID: wpr-922311
ABSTRACT
Congenital pure red cell aplasia, also known as Diamond-Blackfan anemia (DBA), is a hereditary disease characterized by pure red cell aplasia and congenital malformation. Its main clinical features are anemia, dysplasia, and tumor susceptibility. Ribosomal protein (RP) gene mutation is the main pathogenesis of DBA. The most common type of gene mutation is RPS19 gene mutation. Heterozygous mutations in as many as 19 RP genes and other non-RP genes mutations have been identified in DBA. This review summarized briedfly the latest research advances in the pathogenesis of DBA.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Ribosomes / Anemia, Diamond-Blackfan / Mutation Type of study: Etiology study Limits: Humans Language: Chinese Journal: Journal of Experimental Hematology Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Ribosomes / Anemia, Diamond-Blackfan / Mutation Type of study: Etiology study Limits: Humans Language: Chinese Journal: Journal of Experimental Hematology Year: 2021 Type: Article