Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.
Bienvenu
T
T
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France.
Lenoir
G
G
Fonknechten
N
N
Desclaux-Arramond
F
F
Kaplan
J C
JC
Beldjord
C
C
D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation / Q000235:genetics*; D005602:France; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA