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

Author： Torralba M.A.   Alfonso P.   Pérez-Calvo J.I.   Cenarro A.   Pastores G.M.   Giraldo P.   Civeira F.   Pocoví M.  

Publisher： Academic Press

ISSN： 1079-9796

Source： Blood Cells, Molecules, and Diseases, Vol.29, Iss.1, 2002-01, pp. : 35-40

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