|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report statistically significant overrepresentation of pathogenic variants for several Mendelian disorders, including phenylketonuria (PAH, rs5030858), Wilson's disease (ATP7B, rs76151636), factor VII deficiency (F7, rs36209567), kyphoscoliosis type of Ehlers-Danlos syndrome (FKBP14, rs542489955), and several other recessive pathologies.
|
31482689 |
2019 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Co-expression of a single guide RNA plasmid, a FokI-dCas9-zsGreen1 plasmid, and the presence of a single-stranded oligodeoxynucleotide in PAH_c.1222C>T COS-7 cells - an in vitro model for PKU - corrected the PAH variant and restored PAH activity.
|
27786189 |
2016 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Finally, R(th) was shown to detect prevalent single-nucleotide polymorphisms, c.473G>A (R158Q), c.932T>C (p.L311P), and c.1222C>T (R408W), correlated with phenylketonuria, displaying an effect related to the different melting temperatures of homoduplexes and heteroduplexes.
|
24741310 |
2014 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
|
12655548 |
2003 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present authors describe two entirely different courses of late-detected PKU in two brothers with the same R408W/R111X genotype in the PAH gene.
|
12542580 |
2003 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.
|
11317360 |
2001 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the non-immigrant eastern German population, the frequency of R408W accounted for 40.1% of the PKU alleles.
|
10679941 |
2000 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In Heilongjiang, the R111X, Y356X, and R408W mutations accounted for 35% of PKU alleles.
|
11142755 |
2000 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A genealogical study was performed in Lithuanian phenylketonuria (PKU) families with the aim of tracing the origins of the R408W/haplotype 2/VNTR3 allele.
|
9156326 |
1997 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
|
8946176 |
1996 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have used the fluorescent multiplex ARMS method for the identification of common phenylketonuria mutations in Northern Ireland (R408W, 165T and F39L) together with the analysis of a polymorphic short tandem repeat site at the human phenylalanine hydroxylase locus.
|
8808316 |
1995 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuria patients occurs on haplotypes 2.3 and 1.8 in Europeans.
|
7833927 |
1994 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations R408W and I65T are the two commonest PKU mutations in the Northern Irish population.
|
7766952 |
1994 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In Quebec the R408W:H-1 and I65T:H-9 haplotypes accounted for 20% of PKU chromosomes, clustered in two geographic regions, and in every family where they occurred an Irish or Scottish ('Celtic') ancestor could be inferred.
|
7913864 |
1993 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The distribution of the mutant PAH haplotypes 1, 3 and 4 among the Dutch PKU population resembles that in other Northern and Western European countries, but it is striking that mutant haplotype 2 and its associated mutation R408W is nearly absent in The Netherlands, in strong contrast to its neighbouring countries.
|
7903270 |
1993 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, another mutation (R408W), at the same codon and prevalent on haplotype 2 PKU chromosomes in Caucasians, is identified in a PKU allele of haplotype 41.
|
1355066 |
1992 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The haplotype associations, relative frequencies, and distributions of five prevalent PAH mutations (R158Q, R261Q, IVS10nt546, R408W, and IVS12n1) were established in a comprehensive European sample population and subsequently were examined to determine the potential roles of several genetic mechanisms in explaining the present distribution of the major PKU alleles.
|
1361100 |
1992 |
|
rs5030858
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients who were compound heterozygotes for this deletion and R408W in exon 12, or the splice mutation in intron 12, were affected by severe PKU.
|
1682235 |
1991 |