Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

BACKGROUND: Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations. Two phenotypes have been described “Classic” and “late onset” which cannot be predicted exclusively by ge...

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Detalles Bibliográficos
Autores principales: Lavalle, L., Thomas, A. S., Beaton, B., Ebrahim, H., Reed, M., Ramaswami, U., Elliott, P., Mehta, A. B., Hughes, D. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886405/
https://www.ncbi.nlm.nih.gov/pubmed/29621274
http://dx.doi.org/10.1371/journal.pone.0193550

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886405/
https://www.ncbi.nlm.nih.gov/pubmed/29621274
http://dx.doi.org/10.1371/journal.pone.0193550

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