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. 2021 Oct 27;13(10):1428–1438. doi: 10.4254/wjh.v13.i10.1428

Table 3.

Data regarding the patients evaluated for the HSD17B13:TA variant


All
HSD17B13 genotype
T/T
TA/T
TA/TA
n (%) 33 19 (57.58) 12 (36.36) 2 (6.06)
Females, n (%) 16 11 5 0
Mean age (yr) 11.67 ± 3.12 11.09 ± 3.45 12.14 ± 2.25 14.70 ± 3.24
Clinical presentation, n (%)
ALF and/or hemolytic anemia 7 (21.21) 5 (71.43) 2 (28.57) 0
Less severe hepatic forms 26 (78.79) 14 (53.85) 10 (38.46) 2 (7.69)
ATP7B variant
p.His1069Gln (c.3206A>G)/p.His1069Gln (c.3206A>G) 5 2 3 0
p.His1069Gln (c.3206A>G)/p.Gly1341Asp (c.4021G>A) 6 3 3 0
p.His1069Gln (c.3206A>G)/other 7 4 3 0
p.Gly1341Asp (c.4021G>A)/p.Gly1341Asp (c.4021G>A) 7 3 2 2
p.Trp939Cys (c.2817G>T)/p.Trp939Cys (c.2817G>T) 4 4 0 0
p.Trp939Cys (c.2817G>T)/other 1 1 0 0
p.Lys844Ter (c.2530A>T)/p.Lys844Ter (c.2530A>T) 1 1 0 0
p.Lys844Ter (c.2530A>T)/ other 2 1 1 0

ALF: Acute liver failure.