(Q57263975)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

Mechanisms of insertional mutagenesis in human genes causing genetic disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

author name string

M Krawczak

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

publication date

1 August 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

409-415

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00197158

23 September 2019

exact match

0 references

cites work

A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta.

1 reference

12 December 2020

The structure and evolution of the human beta-globin gene family

1 reference

12 December 2020

Identification of a chromosome 18q gene that is altered in colorectal cancers

1 reference

12 December 2020

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1 reference

12 December 2020

Model for the participation of quasi-palindromic DNA sequences in frameshift mutation

1 reference

12 December 2020

Identification of Alu transposition in human lung carcinoma cells.

1 reference

12 December 2020

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

1 reference

12 December 2020

Diagnosis of genetic disease using recombinant DNA. Second edition

1 reference

12 December 2020

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

12 December 2020

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

1 reference

12 December 2020

A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints

1 reference

12 December 2020

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

12 December 2020

Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families

1 reference

12 December 2020

Haemophilia B: database of point mutations and short additions and deletions

1 reference

12 December 2020

A novel ?� arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA

1 reference

12 December 2020

A frame-shift mutation in the cystic fibrosis gene.

1 reference

12 December 2020

A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype

1 reference

12 December 2020

The functional significance of DNA sequence structure in a site-specific genetic recombination reaction

1 reference

12 December 2020

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

1 reference

12 December 2020

LINE-1: a mammalian transposable element

1 reference

12 December 2020

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

1 reference

12 December 2020

Fidelity of DNA polymerase I and the DNA polymerase I-DNA primase complex from Saccharomyces cerevisiae

1 reference

12 December 2020

A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Altered calcitonin gene in a young patient with osteoporosis

1 reference

12 December 2020

Revision of consensus sequence of human Alu repeats--a review

1 reference

12 December 2020

Highly preferred targets for retrovirus integration

1 reference

12 December 2020

Alpha 2-antiplasmin Enschede: alanine insertion and abolition of plasmin inhibitory activity.

1 reference

12 December 2020

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

1 reference

12 December 2020

Insertional mutagenesis of the myc locus by a LINE-1 sequence in a human breast carcinoma.

1 reference

12 December 2020

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

1 reference

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

12 December 2020

Base substitutions, frameshifts, and small deletions constitute ionizing radiation-induced point mutations in mammalian cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Hb Catonsville (glutamic acid inserted between Pro-37(C2)alpha and Thr-38(C3)alpha). Nonallelic gene conversion in the globin system?

1 reference

12 December 2020

Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG)

1 reference

12 December 2020

Spectrum of spontaneous mutations in a cDNA of the human hprt gene integrated in chromosomal DNA

1 reference

12 December 2020

Hemophilia B in a male with a four-base insertion that arose in the germline of his mother

1 reference

12 December 2020

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

1 reference

12 December 2020

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

1 reference

12 December 2020

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency

1 reference

12 December 2020

Hypotheses for testing deviations from random integration: evidence for nonrandom retroviral integration

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00197158

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1652548%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference