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  • Molecular assay reagents intended to identify mutations in the ornithine carbamoyltransferase (OTC) gene, located at chromosome Xp21.1, which encodes for the enzyme ornithine transcarbamylase that participates in the urea cycle. Mutations at this locus have been identified in male patients with ornithine transcarbamylase deficiency (OTCD); carrier females may suffer vomiting, lethargy, and seizures.
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