(Q37935123)

25 August 2017

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title

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

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25 August 2017

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1

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25 August 2017

M Krawczak

2

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25 August 2017

publication date

1 June 1990

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25 August 2017

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25 August 2017

volume

85

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25 August 2017

issue

1

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25 August 2017

page(s)

55-74

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Non-C-G recognition sequences of DNA cytosine-5-methyltransferase from rat liver

25 August 2017

cites work

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12 December 2020

Eukaryotic DNA methylation

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Oligodeoxynucleotides containing synthetic abasic sites. Model substrates for DNA polymerases and apurinic/apyrimidinic endonucleases.

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12 December 2020

Fidelity of replication of phage phi X174 DNA by DNA polymerase III holoenzyme: spontaneous mutation by misincorporation

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12 December 2020

Universal rule for coding sequence construction: TA/CG deficiency-TG/CT excess

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12 December 2020

Higher frequencies of transitions among point mutations

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12 December 2020

Variation in the DNA Methylation Pattern of Expressed and Nonexpressed Genes in Chicken

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12 December 2020

Complementary base pairing and the origin of substitution mutations

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12 December 2020

Sequences and efficiencies of proposed mRNA terminators

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12 December 2020

Specificity of proofreading by the 3'----5' exonuclease of the DNA polymerase-primase of Drosophila melanogaster

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12 December 2020

Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications

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12 December 2020

Exonucleolytic proofreading

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12 December 2020

Exonucleolytic proofreading by calf thymus DNA polymerase delta

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

HPRT: gene structure, expression, and mutation

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Diagnosis of genetic disease using recombinant DNA. Second edition

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12 December 2020

Mutagenesis by transient misalignment.

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Nearest neighbor influences on DNA polymerase insertion fidelity

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Epidemiological investigation of the prevalence of von Willebrand's disease

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Codon usage tabulated from the GenBank genetic sequence data

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

DNA mismatch correction

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Mutational specificity of animal cell DNA polymerases

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Effects of depurination on the fidelity of DNA synthesis

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

The majority of methylated deoxycytidines in human DNA are not in the CpG dinucleotide

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

https://pubmed.ncbi.nlm.nih.gov/2192981

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12 December 2020

The molecular nature of mutations in cultured mammalian cells: a review

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Insertion of nucleotides opposite apurinic/apyrimidinic sites in deoxyribonucleic acid during in vitro synthesis: uniqueness of adenine nucleotides

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Exonucleolytic proofreading increases the accuracy of DNA synthesis by human lymphocyte DNA polymerase alpha-DNA primase

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

DNA cytosine methylation and heat-induced deamination

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Nearest neighbor nucleotide patterns. Structural and biological implications

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Apurinic sites as mutagenic intermediates

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

DNA methylation and CpG suppression

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Recent studies of the fidelity of DNA synthesis

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Evolution of the genome and the genetic code: selection at the dinucleotide level by methylation and polyribonucleotide cleavage

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Next-nucleotide effects in mutations driven by DNA precursor pool imbalances at the aprt locus of Chinese hamster ovary cells

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Molecular basis of base substitution hotspots in Escherichia coli

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Estimating the total number of nucleotide substitutions since the common ancestor of a pair of homologous genes: comparison of several methods and three beta hemoglobin messenger RNA's

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Mutation in human populations

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Mutational effects on protein stability

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Kinetic analysis of base substitution mutagenesis by transient misalignment of DNA and by miscoding

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Repair of a mismatch is influenced by the base composition of the surrounding nucleotide sequence

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Determination of mutation rates in bacteriophage T4 by unneighborly base pairs: genetic analysis

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Inequality in mutation rates of the two strands of DNA.

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Normal oxidative damage to mitochondrial and nuclear DNA is extensive

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

A simple high-resolution procedure to study DNA methylation and in vivo DNA-protein interactions on a single-copy gene level in higher eukaryotes

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Mutational specificity of depurination

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Influence of neighboring bases on DNA polymerase insertion and proofreading fidelity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Mitochondrial DNA polymorphism: evidence that variants detected by restriction enzymes differ in nucleotide sequence rather than in methylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Molecular basis of spontaneous mutation at the aprt locus of hamster cells

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Patterns of nucleotide substitution in pseudogenes and functional genes

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Studies on the biochemical basis of spontaneous mutation. V. Effect of temperature on mutation frequency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Sequence-directed mutagenesis: evidence from a phylogenetic history of human alpha-interferon genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

The distribution of the dinucleotide CpG and cytosine methylation in the vitellogenin gene family

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Depurination-induced infidelity of deoxyribonucleic acid synthesis with purified deoxyribonucleic acid replication proteins in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Methylation at dinucleotides other than CpG: implications for human maintenance methylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Spectrum of spontaneous mutation at the APRT locus of Chinese hamster ovary cells: an analysis at the DNA sequence level

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

CpG islands in vertebrate genomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Fidelity of DNA synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Mutagenesis by apurinic/apyrimidinic sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Mutagenic deamination of cytosine residues in DNA

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

DNA restriction fragment length polymorphisms and heterozygosity in the human genome

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

DNA sequence analysis of spontaneous mutations in the SUP4-o gene of Saccharomyces cerevisiae

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Evidence for reactive oxygen species inducing mutations in mammalian cells

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

The molecular basis of mutations induced by deoxyribonucleoside triphosphate pool imbalances in mammalian cells

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Globin mRNA Sequences: Analysis of Base Pairing and Evolutionary Implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Rate of depurination of native deoxyribonucleic acid

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Evidence for local DNA influences on patterns of substitutions in the human alpha-interferon gene family

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

On the fidelity of DNA replication. Effect of the next nucleotide on proofreading

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Non-randomness of amino-acid changes in the evolution of homologous proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Infidelity of DNA synthesis associated with bypass of apurinic sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Evolution of the primate beta-globin gene region. High rate of variation in CpG dinucleotides and in short repeated sequences between man and chimpanzee

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Molecular evolution of intergenic DNA in higher primates: pattern of DNA changes, molecular clock, and evolution of repetitive sequences

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Mitochondrial DNA from various organisms does not contain internally methylated cytosine in -CCGG- sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Structure of mutant alleles at the aprt locus of Chinese hamster ovary cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

The mutational specificity of DNA polymerase-beta during in vitro DNA synthesis. Production of frameshift, base substitution, and deletion mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

The base substitution fidelity of eucaryotic DNA polymerases. Mispairing frequencies, site preferences, insertion preferences, and base substitution by dislocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

DNA sequence analysis of spontaneous mutations at the aprt locus of hamster cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Amino acid difference formula to help explain protein evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Rate of base substitution in mammalian nuclear DNA is dependent on local sequence context

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

The mutational specificity of DNA polymerases-alpha and -gamma during in vitro DNA synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Different base/base mispairs are corrected with different efficiencies and specificities in monkey kidney cells.

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

The CpG dinucleotide and human genetic disease

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https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

CpG-rich islands and the function of DNA methylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Non-randomness of base replacement in point mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2192981

12 December 2020

Identifiers

DOI

10.1007/BF00276326

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25 August 2017

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