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First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene
Primer caso descrito de enfermedad de Fabry causada por un mosaicismo somático en el gen GLA
Roberto Barriales-Villaa,b,
Corresponding author
, Juan Pablo Ochoab,c, José Luis Santomé-Collazob,c, Juan Mosquera-Reboredob,d, Mercedes Cao-Vilariñod,e, Lorenzo Monserratb,c
a Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain
b Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain
c Departamento Científico, Health in Code S.L., A Coruña, Spain
d Servicio de Anatomía Patológica, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain
e Servicio de Nefrología, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain
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ISSN: 18855857
Original language: English
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Revista Española de Cardiología (English Edition)

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