Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe ske...

por G. Drelichman, N. Fernández Escobar, B. Soberon, N. Basack, J. Frabasil, A. Schenone, G. Aguilar, M. Larroudé, J. Knight, D. Zhao, J. Ruan, P.K. Mistry
Publicado 2021