rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
9452054
1998
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
9452073
1998
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
9554753
1998
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.
8956039
1996
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
8829633
1996
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
8723693
1996
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
7543567
1995
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
8522333
1995
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
BEFREE
The effects of the mild cystic fibrosis (CF ) mutation P574H were analysed and compared with those of three severe ones (delta I507, delta F508 and R560T ).
7540133
1995
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
7524909
1994
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
7683628
1993
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
8406518
1993
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
BEFREE
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T .
1376016
1992
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
A
0.820
CausalMutation
CLINVAR
Detection of over 98% cystic fibrosis mutations in a Celtic population.
1284639
1992
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
1284529
1992
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
1710600
1991
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
1695717
1990