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 | 7Â 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) | 4Â months | p.Asn1303Lys/p.Leu1077Pro | 108 | NA |