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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

BACKGROUND: Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting doubts about the diagnosis and treatment. The...

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Detalles Bibliográficos
Autores principales:	Varela, Patrícia, Mastroianni Kirsztajn, Gianna, Motta, Fabiana L., Martin, Renan P., Turaça, Lauro T., Ferrer, Henrique L. F., Gomes, Caio P., Nicolicht, Priscila, Mara Marins, Maryana, Pessoa, Juliana G., Braga, Marion C., D’Almeida, Vânia, Martins, Ana Maria, Pesquero, João B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990533/ https://www.ncbi.nlm.nih.gov/pubmed/31996269 http://dx.doi.org/10.1186/s13023-019-1274-3

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