Two New Mild Homozygous Mutations in Gaucher Disease Patients…戈谢病患者中两个新的轻度纯合子突变.pdfVIP

American Journal of Medical Genetics 70:437–443 (1997) Two New Mild Homozygous Mutations in Gaucher Disease Patients: Clinical Signs and Biochemical Analyses Bru Cormand,1 Daniel Grinberg,1 Laura Gort,2 Agata Fiumara,3 Rita Barone,3 Lluı¨sa Vilageliu,1 2 and Amparo Chaba´s * 1Departament de Gene`tica, Universitat de Barcelona´, Barcelona, Spain 2Institut de Bioquı´mica Clı´nica, Barcelona, Spain 3Clinica Pediatrica, Universita di Catania, Catania, Italy Gaucher disease (GD) is a lysosomal storage