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

Internet

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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