New mutation in Fabry disease: c.448delG, first phenotypic description

Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Esteban Calabrese, Guillermo Rodriguez Botta, Dra Paula Rosenfeld

Source: Molecular Genetics and Metabolism Reports - March 4, 2021 Category: Genetics & Stem Cells Source Type: research