An Alu-mediated rearrangement as cause of exon skipping in Hunter disease
RICCI, Verena, REGIS, Stefano, DI DUCA, Marco, FILOCAMO, Mirella
Published in Human genetics (01.04.2003)
Published in Human genetics (01.04.2003)
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Journal Article
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient
REGIS, Stefano, CORSOLINI, Fabio, RICCI, Verena, DI DUCA, Marco, FILOCAMO, Mirella
Published in European journal of human genetics : EJHG (01.02.2004)
Published in European journal of human genetics : EJHG (01.02.2004)
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Journal Article
Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome
Ricci, Verena, Filocamo, Mirella, Regis, Stefano, Corsolini, Fabio, Stroppiano, Marina, Duca, Marco Di, Gatti, Rosanna
Published in American journal of medical genetics. Part A (01.07.2003)
Published in American journal of medical genetics. Part A (01.07.2003)
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Journal Article
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome
Ricci, Verena, Filocamo, Mirella, Regis, Stefano, Corsolini, Fabio, Stroppiano, Marina, Duca, Marco Di, Gatti, Rosanna
Published in American Journal of Medical Genetics Part A (01.07.2003)
Published in American Journal of Medical Genetics Part A (01.07.2003)
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