(Q34559755)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

title

New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

3

1 reference

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24 September 2019

author name string

Atweh GF

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

Brickner HE

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

Kazazian HH Jr

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

Forget BG

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

language of work or name

English

0 references

publication date

1 August 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

24 September 2019

published in

1 reference

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24 September 2019

volume

82

1 reference

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24 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

page(s)

557-561

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.

24 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Structure and expression of a cloned beta o thalassaemic globin gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Transcription maps of polyoma virus-specific RNA: analysis by two-dimensional nuclease S1 gel mapping.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

A beta zero-thalassemic beta-globin RNA that is labile in bone marrow cells is relatively stable in HeLa cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

A method to detect and characterize point mutations in transcribed genes: amplification and overexpression of the mutant c-Ki-ras allele in human tumor cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Sizing and mapping of early adenovirus mRNAs by gel electrophoresis of S1 endonuclease-digested hybrids

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Suppression of the nonsense mutation in homozygous beta 0 thalassaemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Mapping of RNA by a modification of the Berk-Sharp procedure: the 5′ termini of 15 S β-globin mRNA precursor and mature 10 S β-globin mRNA have identical map coordinates

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Biochemical method for mapping mutational alterations in DNA with S1 nuclease: the location of deletions and temperature-sensitive mutations in simian virus 40

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

beta 0 thalassemia, a nonsense mutation in man

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

The nucleotide sequence of the human β-globin gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303548

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

27 October 2018

1 reference

12 December 2020

Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes

1 reference

12 December 2020

Intranuclear defect in beta-globin mRNA accumulation due to a premature translation termination codon

1 reference

12 December 2020

Beta O-39 thalassemia gene: a premature termination codon causes beta-mRNA deficiency without affecting cytoplasmic beta-mRNA stability

1 reference

12 December 2020

The spectrum of beta-thalassemia genes in China and Southeast Asia

1 reference

12 December 2020

A novel basis for delta beta-thalassemia in a Chinese family

1 reference

12 December 2020

A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI113632

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

release_d7w7zfaagbdjrgzb2i3rkmmhkq

24 September 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d7w7zfaagbdjrgzb2i3rkmmhkq

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3403716%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

1 reference