A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.
Castaldo
G
G
CEINGE scarl and Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli "Federico II", Naples, Italy.
Fuccio
A
A
Cazeneuve
C
C
Picci
L
L
Salvatore
D
D
Scarpa
M
M
Goossens
M
M
Salvatore
F
F
D002648:Child; D002897:Chromosomes, Human, Pair 7; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D020125:Mutation, Missense
C505032:CFTR protein, human; D018389:Codon, Nonsense; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator