Table 3.
In vitro expression of
FECH
mutations
Patient
.
FECH
variant
.
Residual activity of human
FECH
(%)
.
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
Patient
.
FECH
variant
.
Residual activity of human
FECH
(%)
.
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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