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Citation: S. Regis et al., Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR, PRENAT DIAG, 21(8), 2001, pp. 668-671

Authors: Filocamo, M Bonuccelli, G Mazzotti, R Corsolini, F Stroppiano, M Regis, S Gatti, R

Citation: M. Filocamo et al., Somatic mosaicism in a patient with Gaucher disease type 2: Implication for genetic counseling and therapeutic decision-making, BL CELL M D, 26(6), 2000, pp. 611-612

Authors: Filocamo, M Bonuccelli, G Mazzotti, R Giona, F Gatti, R

Citation: M. Filocamo et al., Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: Implications for prognosis and genetic counseling, BL CELL M D, 26(4), 2000, pp. 307-311

Authors: Romano, M Danek, GM Baralle, FE Mazzotti, R Filocamo, M

Citation: M. Romano et al., Functional characterization of the novel mutation IVS 8 (-11delC) (-14T > A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I, BL CELL M D, 26(3), 2000, pp. 171-176