(Q28294735)

English

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

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scholarly article

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A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency (English)

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dihydropyrimidine dehydrogenase deficiency

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author name string

P Vreken

1

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A B Van Kuilenburg

2

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R Meinsma

3

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G P Smit

4

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H D Bakker

5

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R A De Abreu

6

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A H van Gennip

7

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language of work or name

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publication date

1996

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Journal of Inherited Metabolic Disease

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19

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5

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645-54

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Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

https://api.crossref.org/works/10.1007%2FBF01799841

21 January 2018

Dihydropyrimidine dehydrogenase activity in human blood mononuclear cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An improved PCR method for walking in uncloned genomic DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dihydropyrimidine dehydrogenase deficiency. Neurological aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical findings in six patients with pyrimidine degradation defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification, characterization and inhibition of dihydropyrimidinase from rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Degradation of pyrimidines and pyrimidine analogs--pathways and mutual influences

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between dihydropyrimidine dehydrogenase activity in peripheral mononuclear cells and systemic clearance of fluorouracil in cancer patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of dihydropyrimidine dehydrogenase from human, rat, pig and cow liver. Biochemical and immunological properties

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8892022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01799841

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Dimensions Publication ID

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release_iloxio3oynh7dh656qwyze4yli

1 reference

https://api.fatcat.wiki/v0/release/iloxio3oynh7dh656qwyze4yli

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

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