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Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
Fabry disease (FD) is an X‐linked genetic disease due to pathogenic variants in GLA. The phenotype varies depending on the GLA variant, alpha‐galactosidase residual activity, patient's age and gender and, for females, X chromosome inactivation. Over 1000 variants have been identified, many thro...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304128/ https://www.ncbi.nlm.nih.gov/pubmed/34927718 http://dx.doi.org/10.1111/cge.14102 |