Publications:

Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.

Rna Biology

Lombardi, Silvia S; Ferrarese, Mattia M; Marchi, Saverio S; Pinton, Paolo P; Pinotti, Mirko M; Bernardi, Francesco F; Branchini, Alessio A

Publication Date: 2020-02

Variant appearance in text: GLA: C56X

PubMed Link: 31613176

Variant Present in the following documents:

• Main text

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Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.

Jimd Reports

Goker-Alpan, Ozlem O; Gambello, Michael J MJ; Maegawa, Gustavo H B GH; Nedd, Khan J KJ; Gruskin, Daniel J DJ; Blankstein, Larry L; Weinreb, Neal J NJ

Publication Date: 2016

Variant appearance in text: GLA: C56X

PubMed Link: 26303609

Variant Present in the following documents:

• Main text

View BVdb publication page