X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.

In the Fabry Outcome Survey (FOS), which included 545 patients belonging to 157 families from nine European countries, a highly significant positive correlation was found between the age at entry into FOS and the FOS Severity Index as well as between the age at entry into FOS and the number of affected organs ( p < 0.001) in males with GLA missense mutations, irrespective of whether the change in the amino acid side chain predicted in the α-gal protein was classified as a conservative or non-conservative change [ 57 ].

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