Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients

Autor: Basgalupp, Suelen P., Siebert, Marina, Vairo, Filippo Pinto e, Chami, Anisse Marques, Pinto, Louise Lapagesse de Camargo, Carvalho, Gerson da S., Schwartz, Ida Vanessa D.
Zdroj: In Blood Cells, Molecules and Diseases February 2018 68:17-20
Databáze: ScienceDirect