(Q80188199)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16941645%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites (English)

1 reference

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29 December 2019

1

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29 December 2019

author name string

Hugh J Craig

2

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29 December 2019

David C Walker

3

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29 December 2019

Linda S Weaving

4

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29 December 2019

Christopher E Pearson

5

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29 December 2019

Roderick R McInnes

6

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29 December 2019

publication date

1 November 2006

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29 December 2019

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29 December 2019

volume

27

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29 December 2019

issue

11

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29 December 2019

page(s)

1065-1071

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Disease-causing mutations in the human genome

29 December 2019

cites work

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7 January 2021

Effect of the DNA topoisomerase II inhibitor VP-16 on illegitimate recombination in yeast chromosomes

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7 January 2021

Illegitimate recombination mediated by calf thymus DNA topoisomerase II in vitro

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7 January 2021

A shuttle vector for analysis of illegitimate recombination in mammalian cells: effects of DNA topoisomerase inhibitors on deletion frequency

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7 January 2021

ON THE TOPOGRAPHY OF THE GENETIC FINE STRUCTURE

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7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

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7 January 2021

Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications

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7 January 2021

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

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7 January 2021

DNA replication: a complex matter.

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7 January 2021

A DNA polymerase alpha pause site is a hot spot for nucleotide misinsertion

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7 January 2021

Small deletion and insertion mutations induced by the topoisomerase II inhibitor teniposide in CHO cells and comparison with sites of drug-stimulated DNA cleavage in vitro

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7 January 2021

The unusual structures of the hot-regions flanking large-scale deletions in human mitochondrial DNA

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7 January 2021

Drosophila topoisomerase II-DNA interactions are affected by DNA structure

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7 January 2021

Bacteriophage T4 DNA topoisomerase mediates illegitimate recombination in vitro

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7 January 2021

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

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7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

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7 January 2021

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

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7 January 2021

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

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7 January 2021

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

1 reference

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7 January 2021

Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency

1 reference

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7 January 2021

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

1 reference

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7 January 2021

A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

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7 January 2021

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

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7 January 2021

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation

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7 January 2021

Human Gene Mutation Database (HGMD): 2003 update

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7 January 2021

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

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7 January 2021

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20352

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16941645%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference