TY - JOUR
T1 - Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X
T2 - An extremely mild form of CFTR dysfunction
AU - Salvatore, Donatello
AU - Tomaiuolo, Rossella
AU - Vanacore, Borghina
AU - Elce, Ausilia
AU - Castaldo, Giuseppe
AU - Salvatore, Francesco
PY - 2005/3/1
Y1 - 2005/3/1
N2 - Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been shown to cause typical cystic fibrosis (CF) and several milder phenotypes. We report on two asymptomatic sisters who had isolated increased sweat chloride concentrations, and in whom systematic scanning of the whole coding region of the CFTR gene revealed the F508del/S1455X genotype.
AB - Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been shown to cause typical cystic fibrosis (CF) and several milder phenotypes. We report on two asymptomatic sisters who had isolated increased sweat chloride concentrations, and in whom systematic scanning of the whole coding region of the CFTR gene revealed the F508del/S1455X genotype.
KW - Cystic fibrosis
KW - Genotype-phenotype correlation
KW - Mild phenotype
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U2 - 10.1002/ajmg.a.30518
DO - 10.1002/ajmg.a.30518
M3 - Article
C2 - 15666307
AN - SCOPUS:14044259325
SN - 1552-4825
VL - 133 A
SP - 207
EP - 208
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 2
ER -