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

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: Regis, S Filocamo, M Corsolini, F Caroli, F Keulemans, JLM van Diggelen, OP Gatti, R

Citation: S. Regis et al., An Asn -> Lys substitution in saposin B involving a conserved amino acidicresidue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity, EUR J HUM G, 7(2), 1999, pp. 125-130