Relationship between genotype and phenotype for the CFTR gene W846X mutation.
Duguépéroux
I
I
Service de Cytogénétique, Cytologie et Biologie de la Reproduction, Université de Bretagne Occidentale - CHU Morvan, Brest, France.
Bellis
G
G
Férec
C
C
Gillet
D
D
Scotet
V
V
De Braekeleer
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator