Table 4.

Frequencies of AGXT mutations in patients with different PH1 phenotype

Mutation of AGXT Gene Gene Frequenciesa
Group A (n = 8) Group B (n = 7) Group C (n = 5) Total (n = 23)
aGene frequency calculated by direct gene counting; b group A versus B + C (P < 0.05); c group A versus B + C (P < 0.05); d uncharacterized mutation.
T444C 0.25b 0.06 0.108
G468A 0.125 0.043
C156ins 0.125 0.142 0.13
G588A 0.125 0.187 0.108
T576A 0.06 0.0217
G640A 0.06 0.0217
GAG408ins 0.06 0.0217
G630A 0.06c 0.428 0.125 0.239
G1098del 0.06 0.143 0.125 0.108
G243A 0.143 0.043
G244T 0.071 0.0217
C252T 0.071 0.0625 0.043
C155del 0.043
Xd 0.06 0.0625 0.043