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Table 1 Review of the literature concerning the W162C mutation of GLA

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