From: Fabry disease in W162C mutation: a case report of two patients and a review of literature
Authors (year)
Key features
Germain et al. (1996) [1]
First description, female carrier
Garman et al. (2002) [3]
Mutation localized in hydrophobic core of GLA
Saito et al. (2013) [4]
Confirmed findings of [3]
Xiao et al. (2019) [6]
Study of microRNA expression, one W162C patient with classical disease