False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

Autor: Peter T. Lansbury, Valerie Christina Cullen, Geert Jan Groeneveld, Vincenzo Bonifati, Arnoud Schmitz, Jonas M. den Heijer, Dana C. Hilt

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports, 11(1):161. Nature Publishing Group
Scientific Reports, 11(1). NATURE RESEARCH
Scientific Reports

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c760291513383969ffac918eeebab07
https://hdl.handle.net/1887/3278256

A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.

Autor: Heijer, Jonas M., Cullen, Valerie C., Quadri, Marialuisa, Schmitz, Arnoud, Hilt, Dana C., Lansbury, Peter, Berendse, Henk W., Berg, Wilma D.J., Bie, Rob M.A., Boertien, Jeffrey M., Boon, Agnita J.W., Contarino, M. Fiorella, Hilten, Jacobus J., Hoff, Jorrit I., Mierlo, Tom, Munts, Alex G., Plas, Anne A., Ponsen, Mirthe M., Baas, Frank, Majoor‐Krakauer, Danielle

Publikováno v: Movement Disorders; Sep2020, Vol. 35 Issue 9, p1667-1674, 8p