De novo mutation in a male patient with Fabry disease: a case report

BACKGROUND: Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are respon...

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Autores principales: Iemolo, Francesco, Pizzo, Federica, Albeggiani, Giuseppe, Zizzo, Carmela, Colomba, Paolo, Scalia, Simone, Bartolotta, Caterina, Duro, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892097/
https://www.ncbi.nlm.nih.gov/pubmed/24398019
http://dx.doi.org/10.1186/1756-0500-7-11

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