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Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body
BACKGROUND: Fabry disease is caused by mutations in the α-galactosidase A (GLA) gene, which is located in X-chromosome coding for the lysosomal enzyme of GLA. Among many gene mutations, E66Q mutation is under discussion for its pathogenicity because there is no clinical report showing pathological e...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862085/ https://www.ncbi.nlm.nih.gov/pubmed/27160240 http://dx.doi.org/10.1186/s12872-016-0262-y |