Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.
Cozar
Monica
M
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, CIBER de Enfermedades Raras, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.
Bembi
Bruno
B
Dominissini
Silvia
S
Zampieri
Stefania
S
Vilageliu
Lluisa
L
Grinberg
Daniel
D
Dardis
Andrea
A
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*
D001617:beta-Glucosidase