rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Only one of these mutations (R553X) is in the Caucasian CF screening panel.
|
27717243 |
2017 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Only one of these mutations (R553X) was in the Caucasian CF screening panel.
|
28608624 |
2017 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Only one of these mutations (R553X) is present in the Caucasian CFTR common mutation-screening panel; and none of the 11 mutations are common in Caucasian CF patients.
|
25580864 |
2015 |
rs74597325
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs74597325
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
rs74597325
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An individual with the CFTR genotype R553X/F508del-R553Q showed the typical symptoms and electrophysiological anomalies of cystic fibrosis in the airways and intestine.
|
19176844 |
2009 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
|
17475917 |
2007 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The child with classic CF had DeltaF508 and R553X mutations.
|
15482777 |
2004 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis.
|
7514569 |
1994 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.
|
7693946 |
1993 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness.
|
7504691 |
1993 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The missense mutation Arg553----Stop discovered in American Blacks is also present on cystic fibrosis chromosomes of Caucasian ancestry.
|
1376182 |
1992 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A cystic fibrosis patient homozygous for the nonsense mutation R553X.
|
1682496 |
1991 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The R553X mutation was present on a further 9 out of 86 German non-delta F508 CF chromosomes linked with the XV2c-KM19-Mp6d9-J44-GATT haplotypes 2-2-2-1-1 and 1-1-2-1-2.
|
1715308 |
1991 |
rs74597325
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |