Cystic fibrosis caused by homozygosity for the CFTR gene mutation 175insT.
Schaedel
C
C
Department of Paediatrics, University Hospital, Lund, Sweden.
Schwartz
M
M
Kornfält
R
R
Holmberg
L
L
D000293:Adolescent; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator