False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

por Jonas M. den Heijer, Arnoud Schmitz, Peter Lansbury, Valerie C. Cullen, Dana C. Hilt, Vincenzo Bonifati, Geert Jan Groeneveld
Publicado 2021

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).

por Tianna Zhao, Esther De Graaff, Guido J Breedveld, Agnese Loda, Lies-Anne Severijnen, Cokkie H Wouters, Frans W Verheijen, Marieke C J Dekker, Pasquale Montagna, Rob Willemsen, Ben A Oostra, Vincenzo Bonifati
Publicado 2011