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...

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Detalles Bibliográficos
Autores principales: Hertzog, Ashley, Selvanathan, Arthavan, Halligan, Rebecca, Fazio, Timothy, de Jong, Gerard, Bratkovic, Drago, Bhattacharya, Kaustuv, Tolun, Adviye Ayper, Bennetts, Bruce, Fisk, Katrina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
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

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