Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
Feuillet-Fieux
M N
MN
Laboratory of Biochemical Genetic, INSERM U467, Groupe Hospitalier Necker Enfants-Malades, 149 rue de S¿vres 75743 Paris Cedex 15, France.
Sermet
I
I
Edelman
A
A
Torossi
T
T
Ferrec
M
M
Guillot
M
M
Lenoir
G
G
Bonnefont
J P
JP
Thuillier
L
L
D000293:Adolescent; D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D009154:Mutation / Q000235:genetics*
C505032:CFTR protein, human; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator