Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A).
Capurso
Gabriele
G
Sbrozzi-Vanni
Andrea
A
Piane
Maria
M
Begini
Paola
P
Panzuto
Francesco
F
Libi
Fabio
F
Margagnoni
Giovanna
G
Capotondi
Carlo
C
Marignani
Massimo
M
Chessa
Luciana
L
Delle Fave
Gianfranco
G
D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005192:Family Health; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator