- Discovery of novel mutations in the dihydropyrimidine ...🔍
- Identification of novel mutations in the dihydropyrimidine ...🔍
- Identification of a novel mutation in the dihydropyrimidine ...🔍
- [PDF] Discovery of novel mutations in the dihydropyrimidine ...🔍
- Novel disease|causing mutations in the dihydropyrimidine ...🔍
- Identification of Novel Mutations in the Dihydropyrimidine ...🔍
- Identification of Two Novel Mutations C79X and R235Q in the ...🔍
- Identification of three novel mutations in the dihydropyrimidine ...🔍
Discovery of novel mutations in the dihydropyrimidine ...
Discovery of novel mutations in the dihydropyrimidine ... - NCBI
Three novel non-synonymous mutations of DPYD, c.2509-2510insC, c.1801G>C, and c.680G>A, were detected in these subjects.
Discovery of novel mutations in the dihydropyrimidine ... - PubMed
Three novel non-synonymous mutations of DPYD, c.2509-2510insC, c.1801G>C, and c.680G>A, were detected in these subjects.
Identification of novel mutations in the dihydropyrimidine ...
We reported recently the first Japanese case of decreased DPD activity accompanied by severe 5-FU toxicity. The present study describes the ...
Identification of a novel mutation in the dihydropyrimidine ...
A novel mutation 464 T>A was identified in DPYD gene exon 5, resulting in the replacement of leucine 155 by a stop codon in the protein. We confirmed this ...
[PDF] Discovery of novel mutations in the dihydropyrimidine ...
Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive ...
(PDF) Discovery of novel mutations in the dihydropyrimidine ...
ArticlePDF Available. Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on ...
Novel disease-causing mutations in the dihydropyrimidine ...
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure ... 1To whom ...
Identification of Novel Mutations in the Dihydropyrimidine ...
5-FU,. 5-fluorouracil: RT, reverse transcription: Ter, termination codon. Identification of Novel Mutations in the Dihydropyrimidine. Dehydrogenase. Gene in a ...
Identification of a novel mutation in the dihydropyrimidine ...
Objectives: Life-threatening toxic side-effects following 5-FU exposure have been related to deficiency of dihydropyrimidine dehydrogenase (DPD), the rate- ...
Identification of Two Novel Mutations C79X and R235Q in the ...
The dihydropyrimidine dehydrogenase (DPD) activity in peripheral blood mononuclear cells was 0.16 nmol/mg/h; controls: 9.9 ± 2.8 nmol/mg/h. Analysis of DPYD ...
Identification of three novel mutations in the dihydropyrimidine ...
Article Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or ...
Discovery of novel mutations in the dihydropyrimidine ... - OUCI
Morel A, Boisdron-Celle M, Fey L, Lainé-Cessac P, Gamelin E. Identification of a novel mutation in the dihydropyrimidine dehydrogenase gene in a patient with a ...
Rare Dihydropyrimidine Dehydrogenase Variants and Toxicity by ...
Numerous reports suggest today that the discovery of rare or novel mutations in the DPYD gene may account for an appreciable percentage of fluoropyrimidine ...
Identification of three novel mutations in the dihydropyrimidine ...
Analysis of the DPD gene (DPYD) in two patients presenting with complete DPD deficiency and the parents of an affected child showed the presence ...
Dihydropyrimidine dehydrogenase (DPD) deficiency: novel ...
Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene. ... Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene ...
Lethal 5-fluorouracil toxicity associated with a novel mutation in the ...
Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of 5-FU; a DPD deficiency is increasingly being recognized as an.
A novel large intragenic DPYD deletion causing dihydropyrimidine ...
Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines.
ready for routine clinical application within personalized medicine?
Identification of a novel mutation in the dihydropyrimidine dehydrogenase gene in a patient with a lethal outcome following 5-fluorouracil ...
Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5 ...
One patient was heterozygous for the splice-site mutation IVS14+1G→A, whereas the second patient was heterozygous for a novel missense mutation ...
Novel disease-causing mutations in the dihydropyrimidine ...
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. van Kuilenburg ...