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A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency (OTCD) is an X‐linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the accumulation of neurotoxic ammonia. Approximately 80%–90% of the causative variants are identified by Sanger sequencing or multiplex ligation‐depen...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259394/ https://www.ncbi.nlm.nih.gov/pubmed/35822098 http://dx.doi.org/10.1002/jmd2.12289 |