(Q28118609)

4 January 2017

title

Molecular basis for dominantly inherited inclusion body beta-thalassemia (English)

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4 January 2017

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S. L. Thein

1

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4 January 2017

C. Hesketh

2

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4 January 2017

P. Taylor

3

1 reference

4 January 2017

I. J. Temperley

4

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4 January 2017

R. M. Hutchinson

5

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4 January 2017

J. M. Old

6

1 reference

4 January 2017

W. G. Wood

7

1 reference

4 January 2017

J. B. Clegg

8

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4 January 2017

D. J. Weatherall

9

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4 January 2017

language of work or name

English

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publication date

1 May 1990

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

4 January 2017

published in

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4 January 2017

volume

87

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4 January 2017

issue

10

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4 January 2017

page(s)

3924–3928

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DNA sequencing with chain-terminating inhibitors

4 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

Characterization of a spontaneous mutation to a beta-thalassemia allele

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

Hemoglobin Cranston, an unstable variant having an elongated beta chain due to nonhomologous crossover between two normal beta chain genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

Inclusion-body beta-thalassemia trait. A form of beta thalassemia producing clinical manifestations in simple heterozygotes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

Inclusion body beta-thalassemia trait in a Swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended beta chain carboxy-terminus due to a modification in codon beta 114

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

Heterozygous Beta Thalassaemia of Unusual Severity

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54016

A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971109

12 December 2020

Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971109

12 December 2020

Determination of alpha thalassaemia phenotypes by messenger RNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971109

12 December 2020

A family with segregating triplicated alpha globin loci and beta thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971109

12 December 2020

Thalassaemia intermedia: a new molecular basis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971109

12 December 2020

A new unstable haemoglobin variant: Hb Shanghai [beta 131(H9)Gln----Pro] found in China

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971109

12 December 2020

Identifiers

DOI

10.1073/PNAS.87.10.3924

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