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
Titel:
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
Auteur:
Torralba, M.A. Alfonso, P. Pérez-Calvo, J.I. Cenarro, A. Pastores, G.M. Giraldo, P. Civeira, F. Pocovı́, M.