Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants

出版年份 2017 全文链接

标题

作者

关键词

G6PD, G6PD deficiency, enzymopathy, missense variants, ExAC database, PCA, variants of unknown significance, VUS, protein stability, enzyme activity

出版物

Volume 18, Issue 11, Pages 2592-2599

出版商

Elsevier BV

发表日期

2017-03-15

DOI

10.1016/j.celrep.2017.02.048

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