False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

A variant in the GBA1 gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a polymerase dependent allelic imbalance when using next generation sequencing, potentially resulting in false-negative results when the allele...

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Detalles Bibliográficos
Autores principales: den Heijer, Jonas M., Schmitz, Arnoud, Lansbury, Peter, Cullen, Valerie C., Hilt, Dana C., Bonifati, Vincenzo, Groeneveld, Geert Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7794395/
https://www.ncbi.nlm.nih.gov/pubmed/33420335
http://dx.doi.org/10.1038/s41598-020-80564-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7794395/
https://www.ncbi.nlm.nih.gov/pubmed/33420335
http://dx.doi.org/10.1038/s41598-020-80564-y

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