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Table 1 Demographic data of the patients

From: Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients

Patient

Sex

Age

BMI

Age of diagnosis

Genotype

Sweat chloride (mmol/L)

IRT (ng/ml)

1

M

7 yrs

14.57 (Underweight)

Birth

p.Phe508del/p.Leu1077Pro

112

84/43

2

M

10

19.80 (Normal weight)

Birth

p.Phe508del/p.Leu1077Pro

101

155/215

3

M

12

19.63 (Normal weight)

Birth

p.Phe508del/p.Leu1077Pro

97

181/100

4

F

20

16.44 (Underweight)

4 months

p.Asn1303Lys/p.Leu1077Pro

108

NA

  1. BMI: body mass index.
  2. IRT: immunoreactive trypsinogen, first week/third week after birth. Normal range values <60 ng/ml and <40 ng/ml third week.