ABCC7 p.Glu1418*
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PMID: 20522854
[PubMed]
Sermet-Gaudelus I et al: "Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis."
No.
Sentence
Comment
88
The tracings of three infants with CF (F508del/E1418X, 6 months old; F508del/F508del, 8 months old; and N1303K/N1303K, 18 months old, respectively) are compared with that of a healthy control (3 years old, negative neonatal screening, sweat Cle at 25 mmol/l, no mutation found at extensive genetic analysis).
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ABCC7 p.Glu1418* 20522854:88:47
status: NEW