Propionic acidemia: Analysis of mutant propionyl-CoA carboxylase enzymes expressed inEscherichia coli
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference41 articles.
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3. Coding Sequence Mutations in the Alpha Subunit of Propionyl-CoA Carboxylase in Patients with Propionic Acidemia
4. Structure of the PCCA Gene and Distribution of Mutations Causing Propionic Acidemia
5. Changes in the Carboxyl Terminus of the β Subunit of Human Propionyl-CoA Carboxylase Affect the Oligomer Assembly and Catalysis: Expression and Characterization of Seven Patient-Derived Mutant Forms of PCC in Escherichia coli
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3. Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia;Molecular Genetics and Metabolism Reports;2020-12
4. Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations;Molecular Genetics and Metabolism;2018-11
5. Striking Diversity in Holoenzyme Architecture and Extensive Conformational Variability in Biotin-Dependent Carboxylases;Structural and Mechanistic Enzymology;2017
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