Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: An extremely mild form of CFTR dysfunction
D Salvatore, R Tomaiuolo, B Vanacore… - American Journal of …, 2005 - Wiley Online Library
American Journal of Medical Genetics Part A, 2005•Wiley Online Library
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.© 2005 Wiley‐Liss, Inc.
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.© 2005 Wiley‐Liss, Inc.
Abstract
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. © 2005 Wiley‐Liss, Inc.
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