(Q36249573)

13 August 2017

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site (English)

1 reference

Correction: β-Thalassemia in American Blacks: Novel mutations in the “TATA” box and an acceptor splice site

13 August 2017

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corrigendum / erratum

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author

Stilianos Antonarakis

1

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13 August 2017

Irkin SH

2

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13 August 2017

Cheng TC

3

1 reference

13 August 2017

Scott AF

4

1 reference

13 August 2017

Sexton JP

5

1 reference

13 August 2017

Trusko SP

6

1 reference

13 August 2017

Charache S

7

1 reference

13 August 2017

Kazazian HH Jr

8

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13 August 2017

language of work or name

English

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publication date

1 February 1984

1 reference

13 August 2017

5

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Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

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13 August 2017

81

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13 August 2017

1154-1158

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13 August 2017

4

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Aplastic crisis due to extensive bone marrow necrosis in sickle cell disease

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Organization and expression of eucaryotic split genes coding for proteins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Polymorphism and molecular pathology of the human beta-globin gene

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

ATA box transcription mutation in beta-thalassemia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Abnormal splice in a mutant human beta-globin gene not at the site of a mutation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Evidence for multiple origins of the beta E-globin gene in Southeast Asia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Nonrandom association of polymorphic restriction sites in the β-globin gene cluster

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

A system for shotgun DNA sequencing

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

57 Sequencing end-labeled DNA with base-specific chemical cleavages

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Etiology of Growth Hormone Deficiency in Little, Ames, and Snell Dwarf Mice*

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Restriction endonuclease mapping of the human γ globin gene loci

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

DNA sequencing with chain-terminating inhibitors

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Amplification and characterization of a β-globin gene synthesized in vitro

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit β-globin gene in mouse 3T6 cells

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Homozygous beta thalassemia in American Blacks: the problem of mild thalassemia

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Frequencies of thalassemia in American blacks

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Beta + thalassemia: aberrant splicing results from a single point mutation in an intron.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

Transcriptional Control Signals of a Eukaryotic Protein-Coding Gene

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=344784

58 DNA sequence analysis by primed synthesis

22 September 2018

1 reference

12 December 2020

Abnormally spliced messenger RNA in erythroid cells from patients with β+ thalassemia and monkey cells expressing a cloned β+-thalassemic gene

1 reference

12 December 2020

beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box

1 reference

12 December 2020

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis

1 reference

12 December 2020

Abnormal RNA processing due to the exon mutation of βE-globin gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.81.4.1154

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13 August 2017

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13 August 2017

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