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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Heart
Main Authors: Valtola, Kati, Nino-Quintero, Juanita, Hedman, Marja, Lottonen-Raikaslehto, Line, Laitinen, Tomi, Maria, Maleeha, Kantola, Ilkka, Naukkarinen, Anita, Laakso, Markku, Kuusisto, Johanna
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2020
Assuntos:
Heart Failure and Cardiomyopathies
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7146944/
https://ncbi.nlm.nih.gov/pubmed/31949022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/heartjnl-2019-315933
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados