Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia

Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia

Diamond-Blackfan Anemia (DBA) is an inherited rare disease characterized with severe pure red cell aplasia, and it is caused by the defective ribosome biogenesis stemming from the impairment of ribosomal proteins. Among all DBA-associated ribosomal proteins, RPS19 affects most patients and carries m...

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Bibliographic Details
Main Authors: Ke An, Jing-Bo Zhou, Yao Xiong, Wei Han, Tao Wang, Zhi-Qiang Ye, Yun-Dong Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Genetics
Subjects:
Diamond-Blackfan Anemia
RPS19
missense mutation
structure stability
interaction
pathogenesis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.650897/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.650897/full

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