Molecular characterization of seven beta-thalassemia mutations in Asian Indians. (Q41565091)

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17 October 2019

title

Molecular characterization of seven beta-thalassemia mutations in Asian Indians (English)

1 reference

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17 October 2019

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1 reference

Stilianos Antonarakis

3

object named as

Antonarakis SE

1 reference

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17 October 2019

author name string

Kazazian HH Jr

1

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17 October 2019

Orkin SH

2

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17 October 2019

Sexton JP

4

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17 October 2019

Boehm CD

5

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17 October 2019

Goff SC

6

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17 October 2019

Waber PG

7

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17 October 2019

language of work or name

English

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publication date

1 March 1984

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17 October 2019

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17 October 2019

volume

3

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17 October 2019

issue

3

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17 October 2019

page(s)

593-596

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Duplication/deletion polymorphism 5′- to the human β globin gene

17 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

Oligonucleotide directed mutagenesis of the human beta-globin gene: a general method for producing specific point mutations in cloned DNA.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis

6 June 2018

1 reference

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

The thalassemias: molecular mechanisms of human genetic disease.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

Polymorphism and molecular pathology of the human beta-globin gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

Restriction endonuclease mapping of the human γ globin gene loci

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

beta 0 thalassemia, a nonsense mutation in man

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557393

Structural analysis of a beta-thalassemia gene found in Taiwan

6 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/6714226

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/6714226

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/J.1460-2075.1984.TB01853.X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6714226%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6714226%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

PubMed publication ID

6714226

1 reference