rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
GeneticVariation
BEFREE
We report the clinical features of 21 unrelated cystic fibrosis (CF ) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene.
9375855
1997
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
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
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
GeneticVariation
UNIPROT
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
8829633
1996
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
GeneticVariation
UNIPROT
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
8723693
1996
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
GeneticVariation
UNIPROT
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
7543567
1995
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
GeneticVariation
UNIPROT
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
8522333
1995
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
GeneticVariation
UNIPROT
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
7524909
1994
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
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
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
GeneticVariation
UNIPROT
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
8406518
1993
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
T
0.810
CausalMutation
CLINVAR
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
1379210
1992
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
GeneticVariation
UNIPROT
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
1284529
1992
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
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
rs78194216
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.810
GeneticVariation
UNIPROT
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
1695717
1990