Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene

OBJECTIVE: To investigate whether the Ala143Thr variant of the α-galactosidase A gene (A143T/GLA), with conflicting interpretations of pathogenicity, is associated with Fabry cardiomyopathy. METHODS: The index patient, a woman in her 60s with cardiomyopathy, was screened for variants in 59 cardiomyo...

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Detalles Bibliográficos
Autores principales: Valtola, Kati, Nino-Quintero, Juanita, Hedman, Marja, Lottonen-Raikaslehto, Line, Laitinen, Tomi, Maria, Maleeha, Kantola, Ilkka, Naukkarinen, Anita, Laakso, Markku, Kuusisto, Johanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Heart Failure and Cardiomyopathies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146944/
https://www.ncbi.nlm.nih.gov/pubmed/31949022
http://dx.doi.org/10.1136/heartjnl-2019-315933

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146944/
https://www.ncbi.nlm.nih.gov/pubmed/31949022
http://dx.doi.org/10.1136/heartjnl-2019-315933

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