Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia
Author:
Funder
European Regional Development Fund
Fundación Ramón Areces
Gobierno de España Ministerio de Ciencia e Innovación
Ministerio de Ciencia e Innovación
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference29 articles.
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2. Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia;Attarwala;Nucleic Acid Ther.,2023
3. Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli;Chloupkova;Hum. Mutat.,2002
4. Propionic acidemia: mutation update and functional and structural effects of the variant alleles;Desviat;Mol. Genet. Metab.,2004
5. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision;Forny;J. Inherit. Metab. Dis.,2021
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