A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.
Seia
M
M
Dipartimento Medicina di Laboratorio, Settore di Genetica Molecolare, AO Istituti Clinici di Perfezionamento, Milano, Italy.
Cantù-Rajnoldi
A
A
Ambrosioni
A
A
Fiori
S
S
Bassotti
A
A
Pizzamiglio
G
G
Giunta
A
A
Padoan
R
R
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics; D005091:Exons / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D018410:Pneumonia, Bacterial / Q000235:genetics; D013203:Staphylococcal Infections / Q000235:genetics; D014364:Tryptophan / Q000235:genetics
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014364:Tryptophan