(Q78663091)
Statements
High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients (English)
M A Torralba
P Alfonso
J I Pérez-Calvo
A Cenarro
G M Pastores
P Giraldo
F Civeira