Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.
Bienvenu
T
T
Lepercq
J
J
Allard
J P
JP
Hubert
D
D
Francoual
C
C
Beldjord
C
C
Kaplan
J C
JC
D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D004843:Epistasis, Genetic; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012326:RNA Splicing; D017384:Sequence Deletion; D014649:Vas Deferens / Q000002:abnormalities
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator