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Table 1 ATP8B1 mutation and biochemical parameters in patients enrolled in this study

From: Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1

 

Sex

Age

ATP8B1 mutation in allele 1

ATP8B1 mutation in allele 2

AST/ALT/GGT (U/L)

T-Bil/D-Bil/BA (μM)

Pruritus score

Patient 1

M

2

c. 3033-3034del (Frame shift)

Not found

83/60/36

4.8/4.6/301.3

4

Patient 2

M

6

c.1585-1587TTCdel (p.F529del)

Not found

81/15/27

3.4/3.2/214.1

4

Patient 3

M

16

c.234C > G (p.H78Q) c.202IT > C (p.M674T)

c.1729A > G (p.I577V)

63/51/19

0.6/0.3/54.6

4