Article
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Clinical genetics - 1 Apr 2022
Germain Dominique P, Levade Thierry, Hachulla Eric, Knebelmann Bertrand, Lacombe Didier, Seguin Vanessa Leguy, Nguyen Karine, Noël Esther, Rabès Jean-Pierre
Abstract excerpt
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 through screening protocols more susceptible to disclose non-pathogenic variants or variants of unknown significance (VUS)....
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