A novel missense mutation, S1159F, in exon 19 of the CFTR gene.
Seydewitz
H H
HH
Children's Hospital, University Freiburg, Germany. Sey@kkl200.ukl.uni-freiburg.de
Mall
M
M
Kuehr
J
J
D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D014421:Turkey
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator