|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.
|
26358851 |
2015 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The allelic distribution and heterozygosity results suggest that c.1408A>G, c.1210-12T(5_9) and c.744-33GATT(6_8) can contribute to carrier detection and prenatal diagnosis of CF in Iranian families with previous history of the disease.
|
23043932 |
2013 |
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rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed low cystic fibrosis (CF) frequency remains to be evaluated.
|
22842702 |
2012 |
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rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Absolute linkage between delta F508 and the KM.19-GATT-TUB9-M470V-T854T haplotype (2-2-1-1-1) predicts a relatively recent appearance of delta F508 in Indian CF patients.
|
18782298 |
2009 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The analysis of 2 diallelic loci (M470V and T854T) and a microsatellite IVS8(T)n of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has shown different haplotype distribution in Brazilian cystic fibrosis (CF) chromosomes carrying different CF mutations.
|
16837565 |
2006 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three Iranian CBAVD males with no clinical CF phenotype indicated by a normal karyotype, normal pancreatic function and sweat chloride concentration and no Y chromosome microdeletions were studied for CFTR mutations, IVS8-5T mutations and M470V exon 10 missense polymorphism.
|
16973827 |
2006 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Analysis of intron 8 (TG)mTn and M470V polymorphic loci did not permit the characterization of the CFTR dysfunction underlying the CF phenotype in the patients for which no CFTR mutation was identified.
|
17020467 |
2006 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In order to contribute to a better understanding of the dispersion of cystic fibrosis (CF) mutations in the South of France, seven diallelic and three multiallelic markers [three upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (XV-2c, KM 19 and J44) and seven intragenic polymorphism (IVS6A, IVS8CA, M470V, T854T, IVS17BTA, IVS17BCA and TUB18)] were analyzed for 143 delta F508 chromosomes, 100 CF chromosomes carrying 85 non-delta F508 and 15 unknown mutations, and 198 normal CFTR alleles.
|
8707306 |
1996 |
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rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We now report the application of this method to the simultaneous detection of all mutations and polymorphisms located in exon 10, together with the use of exon 10 polymorphisms, especially the most frequent one (M470V), as intragenic markers for prenatal diagnosis of cystic fibrosis in families with at least one affected child and unknown disease-causing mutations.
|
1545831 |
1992 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German non-CF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.19, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18, TUB20) that span the CFTR gene from exon 6 through exon 21.
|
1371263 |
1992 |