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Prevalence of Fabry disease-causing variants in the UK Biobank

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ sites with prominent cardiovascular and renal involvement. Global prevalence estimates of Fabry disease...

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Detalles Bibliográficos
Autores principales:	Gilchrist, Mark, Casanova, Francesco, Tyrrell, Jess S, Cannon, Stuart, Wood, Andrew R, Fife, Nicole, Young, Katherine, Oram, Richard A, Weedon, Michael N
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2023
Materias:	Population Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086508/ https://www.ncbi.nlm.nih.gov/pubmed/35977816 http://dx.doi.org/10.1136/jmg-2022-108523

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