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...

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Detalles Bibliográficos
Autores principales: Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, Rabès, Jean‐Pierre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Reviews
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

Internet

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

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