A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.
Padoan
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R
Centro di Riferimento Regionale per la Fibrosi Cistica, Università degli Studi di Milano, Italy.
Bassotti
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A
Seia
M
M
Ambrosioni
A
A
Fiori
S
S
Prandoni
S
S
Rajnoldi
A C
AC
Giunta
A
A
Corbetta
C
C
D000471:Alkalosis / Q000097:blood*; D019943:Amino Acid Substitution / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics; D002675:Child, Preschool; D002712:Chlorides / Q000097:blood*; D003550:Cystic Fibrosis / Q000097:blood / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D001224:Aspartic Acid; D018698:Glutamic Acid