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)...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab Rep
Päätekijät: Kumar, Runjun D., Burrage, Lindsay C., Bartos, Jan, Ali, Saima, Schmitt, Eric, Nagamani, Sandesh C.S., LeMons, Cynthia
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2021
Aiheet:
Short Communication
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7809430/
https://ncbi.nlm.nih.gov/pubmed/33489762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100706
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