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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)...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
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| Materias: | |
| 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 |