Top 14+ P.g542x hay nhất
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1.A G542X Cystic Fibrosis Mouse Model For Examining Nonsense ...
20 thg 6, 2018 · The G542X mouse model provides an invaluable resource for the identification of potential therapies of CF nonsense mutations as well as the ... Introduction · Materials and methods · Results · Discussion
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2.A Cystic Fibrosis Patient With The Nonsense Mutation G542X ... - NCBI
A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and ...
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3.A Novel G542X CFTR Rat Model Of Cystic Fibrosis Is Sensitive To ...
19 thg 11, 2020 · The addition of PEG as a dietary supplement improved life expectancy to 70% (P = 0.1573 Figure 1F). Together, CFTR-G542X knockin rats ...
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4.Targeting G542X CFTR Nonsense Alleles ... - Journal Of Cystic Fibrosis
5 thg 2, 2021 · The G542X allele is the most common CFTR nonsense ... in either healthy PDOs ( p = 0.1097) or PDOs containing G542X and either F508del.
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5.A Cystic Fibrosis Patient With The Nonsense Mutation G542X And The ...
4 Guillermit H, Fanen P, Ferec C. A 3'splice siteconsensus sequence mutation in the cystic fibrosis gene. Hum Genet. 1990;85:450-3. 5 ...
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6.Cystic Fibrosis In Spain: High Frequency Of Mutation G542X In The ...
22 thg 7, 1992 · Mutation G542X represents 8% of the total number of CF mutations in Spain, ... Cuppens H, Marynen P, De Boeck C, De Baets F, Eggermont E, ...
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7.Sheep Models Of F508del And G542X Cystic Fibrosis Mutations Show ...
30 thg 6, 2021 · The G542X is a nonsense mutation that introduces a stop codon into the mRNA, thus preventing normal CFTR protein synthesis. Here, we describe ...
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8.Targeting G542X CFTR Nonsense Alleles With ELX-02 Restores ...
ELX-02 read-through increased G542X CFTR mRNA integrity in organoids. ... (p
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9.G542X As A Probable Phoenician Cystic Fibrosis Mutation - Jstor
The G542X mutation mapping that we have defined by a mul- tiple regression of G542X frequencies ... P(X, Y) = 2.76 + 9.75X + 54.36X2 - 113.93X3 - 1786.74X4.
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10.A G542X Cystic Fibrosis Mouse Model For Examining ... - PLOS
Importantly, CFTR restoration is observed in G542X intestinal organoids treated with G418, an aminoglycoside with ... (*P
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11.Prevalence Of DeltaF508, G551D, G542X, And R553X Mutations ...
Cabello GM, Moreira AF, Horovitz D, Correia P, Santa Rosa A, Llerena Jr J, Greg J, Grody WW & Degrave WW (1999). Cystic fibrosis: low frequency of the DF508 ...
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12.[PDF] Spectrum Of Mutations In The CFTR Gene In Cystic Fibrosis Patients ...
F508del, p.G542X, c.1811 + 1.6kbA > G and c.1609delCA, were confirmed. Furthermore, two other relatively common mutations (p.
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13.Mutation Details For C.1624G>T - Cystic Fibrosis Mutation Database
cDNA Name, c.1624G>T. Protein Name, p.Gly542X. Exon or Intron, exon 12. Legacy Exon or Intron, exon 11. Legacy Name, G542X.
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14.[PDF] Prenatal Diagnosis In A Cystic Fibrosis Family: A Combined Molecular ...
We determined that the fetus inherited the P.G542X mutation from its mother and an unknown mutation from its father through the chromosomal phases analysis.
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