Table 3.

In vitro expression of FECHmutations

PatientFECH variantResidual activity of humanFECH (%)
 Wild type 100 
Index patient of family I C406Y 0.6 
Patient II C406S 0.9  
Index patient of family III N408K 100  
 P409S 100  
 C411G 0.1 
 N408K-P409S-C411G 0.1 
PatientFECH variantResidual activity of humanFECH (%)
 Wild type 100 
Index patient of family I C406Y 0.6 
Patient II C406S 0.9  
Index patient of family III N408K 100  
 P409S 100  
 C411G 0.1 
 N408K-P409S-C411G 0.1 

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