A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel based on massively parallel sequencing (MPS)...

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Detalles Bibliográficos
Autores principales: Kumar, Runjun D., Burrage, Lindsay C., Bartos, Jan, Ali, Saima, Schmitt, Eric, Nagamani, Sandesh C.S., LeMons, Cynthia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809430/
https://www.ncbi.nlm.nih.gov/pubmed/33489762
http://dx.doi.org/10.1016/j.ymgmr.2020.100706

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809430/
https://www.ncbi.nlm.nih.gov/pubmed/33489762
http://dx.doi.org/10.1016/j.ymgmr.2020.100706

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