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Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes
Author / Creator:Zampieri, Stefania ; Buratti, Emanuele ; Dominissini, Silvia ; Montalvo, Anna Lisa ; Pittis, Maria Gabriela ; Bembi, Bruno ; Dardis, Andrea
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.422-431
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Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays
Author / Creator:Dominissini, Silvia ; Buratti, Emanuele ; Bembi, Bruno ; Baralle, Marco ; Pittis, Maria Gabriela
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2006-01, Vol.27 (1), p.119-119
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Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1
Author / Creator:Miočić, Snježana ; Filocamo, Mirella ; Dominissini, Silvia ; Montalvo, Anna Lisa E. ; Vlahoviček, Kristian ; Deganuto, Marta ; Mazzotti, Raffaella ; Cariati, Roberta ; Bembi, Bruno ; Pittis, Maria Gabriela
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-01, Vol.25 (1), p.100-100
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Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the [alpha]-Galactosidase A Protein
Author / Creator:Dominissini, Silvia ; Cariati, Roberta ; Nevyjel, Marco ; Guerci, Veronica ; Ciana, Giovanni ; Bembi, Bruno ; Pittis, Maria Gabriela
Publisher:Basel: S. Karger AG
Journal title:Human heredity, 2004-04, Vol.57 (3), p.138
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Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein
Author / Creator:Dominissini, Silvia ; Cariati, Roberta ; Nevyjel, Marco ; Guerci, Veronica ; Ciana, Giovanni ; Bembi, Bruno ; Pittis, Maria Gabriela
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Human heredity, 2004-01, Vol.57 (3), p.138-141
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Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

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Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays

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Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1

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Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the [alpha]-Galactosidase A Protein

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Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein

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