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Table 3 Protoporphyrinogen oxidase activity

From: Genetic and biochemical studies in Argentinean patients with variegate porphyria

Family

Patient

Total activity nmoles PROTO/mg protein/h

PPOX activity (%)

Mutation/Defect

II

P

16.28

43

c.807 G>A/r.spl?

III

P

13.15

39.55

c.808-1G>C/r.spl?

 

C

15.58

46.85

c.808-1G>C/r.spl?

 

C

16.85

50.67

c.808-1G>C/r.spl?

IV

P

14.35

42.56

c.338+3insT/r.spl?

V

P

18.48

55.58

c.101A>T/p.E34V

VII

P

15.84

47.64

c. 995 G>C/pG332A

 

F

16.89

50.79

c. 995 G>C/pG332A

 

C

19.21

57.77

c. 995 G>C/pG332A

VIII

P

16.95

50.98

c.670T>G/p.W224R

 

D

18.12

54.19

c.670T>G/p.W224R

  1. PPOX activity was determined as described in Materials and Methods. The values are the mean value of two determinations run in duplicates.
  2. The patients are the probands of the families indicated in Table 1. PPOX activity values of the clinical and biochemical asymptomatic relatives from these families are shown. Normal value: 33.25 ± 6.32 nmoles PROTO/mg protein/h.
  3. P: proband; F: father; D: daughter; C: cousin
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BMC Medical Genetics

ISSN: 1471-2350

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