Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.
Mercier
B
B
Centre de Biogénétique, C.D.T.S., Brest, France.
Audrézet
M P
MP
Feigelson
J
J
Douchain
F
F
Raguénès
O
O
Verlingue
C
C
Quéré
I
I
Férec
C
C
D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics; D017384:Sequence Deletion
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator