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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: Stroppiano, M Bonuccelli, G Corsolini, F Filocamo, M

Citation: M. Stroppiano et al., Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): Molecular identification of a novel IVS9 (+2GT -> GC) in combination with rare IVS10 (+1GT -> CT), AM J MED G, 101(1), 2001, pp. 55-58

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: Dagnino, F Stroppiano, M Regis, S Bonuccelli, G Filocamo, M

Citation: F. Dagnino et al., Evidence for a founder effect in Sicilian patients with glycogen storage disease type II, HUMAN HERED, 50(6), 2000, pp. 331-333