(Q33674273)

28 July 2017

title

Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis (English)

1 reference

28 July 2017

Rosatelli C

1

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28 July 2017

Leoni GB

2

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28 July 2017

Tuveri T

3

1 reference

28 July 2017

Scalas MT

4

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28 July 2017

Di Tucci A

5

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28 July 2017

Cao A

6

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28 July 2017

language of work or name

English

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publication date

1 February 1987

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

24

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28 July 2017

issue

2

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28 July 2017

page(s)

97-100

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

A β-thalassemia ledon abolishes the sameMstII site as the sickle mutation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

A new polymorphism in the human beta-globin gene useful in antenatal diagnosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049897

Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans

14 July 2018

1 reference

12 December 2020

Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA

1 reference

12 December 2020

Feasibility of prenatal diagnosis of beta-thalassaemia with synthetic DNA probes in two Mediterranean populations

1 reference

12 December 2020

PRENATAL DIAGNOSIS OF BETA-THALASSAEMIA WITH THE SYNTHETIC-OLIGOMER TECHNIQUE

1 reference

12 December 2020

Identifiers

PMC publication ID

1049897

1 reference

28 July 2017

1 reference