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

Fabry disease (FD) (Anderson-Fabry disease, OMIM 301500) is a genetic disorder caused by a pathogenic variant in the GLA gene on chromosome Xq22 that produces a deficiency in the lysosomal enzyme alpha-galactosidase A. It is transmitted as an X-linked trait, although de novo mutations have been desc...

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Detalles Bibliográficos
Autores principales: Calabrese, Esteban, Rodriguez Botta, Guillermo, Rosenfeld, Dra Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937572/
https://www.ncbi.nlm.nih.gov/pubmed/33732617
http://dx.doi.org/10.1016/j.ymgmr.2021.100708

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937572/
https://www.ncbi.nlm.nih.gov/pubmed/33732617
http://dx.doi.org/10.1016/j.ymgmr.2021.100708

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