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
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E et al.
Orphanet Journal of Rare Diseases, 2014
Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
Arranz JA et al.
Journal of Inherited Metabolic Disease, 2007
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