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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...
Shranjeno v:
| izdano v: | Heart |
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| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Publishing Group
2020
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| Teme: | |
| Online dostop: | 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 |
| Oznake: |
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