Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
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1. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review;Frontiers in Genetics;2022-10-11
2. OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort;Journal of Inherited Metabolic Disease;2021-06-10
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4. Probing remote residues important for catalysis in Escherichia coli ornithine transcarbamoylase;PLOS ONE;2020-02-06
5. Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene;BioMed Research International;2018-08-05
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