Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.
Amaral
M D
MD
Pacheco
P
P
Beck
S
S
Farinha
C M
CM
Penque
D
D
Nogueira
P
P
Barreto
C
C
Lopes
B
B
Casals
T
T
Dapena
J
J
Gartner
S
S
Vásquez
C
C
Pérez-Frías
J
J
Olveira
C
C
Cabanas
R
R
Estivill
X
X
Tzetis
M
M
Kanavakis
E
E
Doudounakis
S
S
Dörk
T
T
Tümmler
B
B
Girodon-Boulandet
E
E
Cazeneuve
C
C
Goossens
M
M
Blayau
M
M
Verlingue
C
C
Vieira
I
I
Féréc
C
C
Claustres
M
M
des Georges
M
M
Clavel
C
C
Birembaut
P
P
Hubert
D
D
Bienvenu
T
T
Adoun
M
M
Chomel
J C
JC
De Boeck
K
K
Cuppens
H
H
Lavinha
J
J
D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005060:Europe; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion / Q000235:genetics*; D012720:Severity of Illness Index
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA