Associated Papers
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.
Lee T et al.
Human Genome Variation, 2018
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
Qin L et al.
The Journal of Molecular Diagnostics : Jmd, 2016
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
Mohamed S et al.
Saudi Medical Journal, 2015
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