Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.
Kilinç
M O
MO
Ninis
V N
VN
Tolun
A
A
Estivill
X
X
Casals
T
T
Savov
A
A
Dagli
E
E
Karakoç
F
F
Demirkol
M
M
Hüner
G
G
Ozkinay
F
F
Demir
E
E
Seculi
J L
JL
Pena
J
J
Bousono
C
C
Ferrer-Calvete
J
J
Calvo
C
C
Glover
G
G
Kremenski
I
I
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D017354:Point Mutation
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator