title: Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.
authors.affiliation: Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, CIBER de Enfermedades Raras, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.
authors.forename: Monica
authors.initials: M
authors.lastname: Cozar
authors.forename: Bruno
authors.initials: B
authors.lastname: Bembi
authors.forename: Silvia
authors.initials: S
authors.lastname: Dominissini
authors.forename: Stefania
authors.initials: S
authors.lastname: Zampieri
authors.forename: Lluisa
authors.initials: L
authors.lastname: Vilageliu
authors.forename: Daniel
authors.initials: D
authors.lastname: Grinberg
authors.forename: Andrea
authors.initials: A
authors.lastname: Dardis
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D000328:Adult; D020087:Alu Elements / Q000235:genetics*; D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D005776:Gaucher Disease / Q000235:genetics*; D023061:Gene Order; D006801:Humans; D008297:Male; D011995:Recombination, Genetic; D017384:Sequence Deletion; D001617:beta-Glucosidase / Q000235:genetics*
chemical_list: D001617:beta-Glucosidase