Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
Varon
R
R
Institute of Human Genetics, Children's Hospital, Universitätsklinikum Rudolf Virchow, Free University, Berlin, Germany.
Magdorf
K
K
Staab
D
D
Wahn
H U
HU
Krawczak
M
M
Sperling
K
K
Reis
A
A
D000293:Adolescent; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009298:Nasal Polyps / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion
C505032:CFTR protein, human; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA