Associated Papers
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.
Sacchetto C et al.
Molecular Medicine (cambridge, Mass.), 2021
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
Mohamed S et al.
Saudi Medical Journal, 2015
Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
Ogino W et al.
The Kobe Journal of Medical Sciences, 2007
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