beta-Thalassaemia (Q72884622)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353313%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

review article

1 reference

title

beta-Thalassaemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353313%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

author name string

Thein SL

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353313%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

publication date

1 March 1993

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353313%20AND%20SRC:MED&resulttype=core&format=json

Best Practice and Research: Clinical Haematology

30 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353313%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353313%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353313%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

page(s)

151-175

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353313%20AND%20SRC:MED&resulttype=core&format=json

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

30 October 2019

cites work

1 reference

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7 January 2021

Isolation and characterization of the translation product of a β-globin gene nonsense mutation (β121 GAA→TAA)

1 reference

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7 January 2021

Increased protein binding to a -530 mutation of the human beta-globin gene associated with decreased beta-globin synthesis

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7 January 2021

The spectrum of beta thalassaemia in Burma

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7 January 2021

The homozygous state for the -87 C----G beta + thalassaemia

1 reference

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7 January 2021

Interaction between homozygous beta (0) thalassaemia and the Swiss type of hereditary persistence of fetal haemoglobin

1 reference

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7 January 2021

Molecular characterization of a novel 10.3 kb deletion causing beta-thalassaemia with unusually high Hb A2

1 reference

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7 January 2021

A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia

1 reference

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7 January 2021

The spectrum of β-thalassaemia mutations in Sicily

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7 January 2021

Molecular heterogeneity of beta-thalassaemia in the Japanese: identification of two novel mutations

1 reference

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7 January 2021

A single nucleotide deletion in codon 123 of the beta-globin gene causes an inclusion body beta-thalassaemia trait: a novel elongated globin chain beta Makabe

1 reference

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7 January 2021

A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster

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7 January 2021

The 12.6 kilobase DNA deletion in Dutch beta zero-thalassaemia

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7 January 2021

Position-independent, high-level expression of the human beta-globin gene in transgenic mice

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7 January 2021

Beta thalassaemia in the indigenous British population

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7 January 2021

Importance of globin gene order for correct developmental expression.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

The beta- and delta-thalassemia repository

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Molecular characterization of β-thalassemia in Czechoslovakia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Molecular characterization of beta-thalassaemia in 174 Greek patients with thalassaemia major

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Thalassaemia intermedia: interaction of the triple alpha-globin gene arrangement and heterozygous beta-thalassaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

The proximal element of the beta globin locus control region is not functionally required in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Mediterranean types of beta-thalassemia in the German population

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

β Thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Studies of beta-thalassemia mutations in families living in three provinces in southern China

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Promoter mutations producing mild beta-thalassaemia in the Italian population

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families

1 reference

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7 January 2021

Beta-thalassemia in Turkey

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Heterogeneity of DNA deletion in gamma delta beta-thalassemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

A New Genetic Variant of β-Thalassaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

The silent carrier allele: beta thalassemia without a mutation in the beta-globin gene or its immediate flanking regions

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

β+Thalassaemia—Portuguese type: clinical, haematological and molecular studies of a newly defined form of β thalassaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Gamma delta beta-thalassaemias 1 and 2 are the result of a 100 kbp deletion in the human beta-globin cluster

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Dominant beta thalassaemia: molecular basis and pathophysiology

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Thalassaemia intermedia: a new molecular basis

1 reference

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7 January 2021

Association of thalassaemia intermedia with a beta-globin gene haplotype

1 reference

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7 January 2021

The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis

1 reference

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7 January 2021

The Corfu delta beta thalassaemia mutation in Greece: haematological phenotype and prevalence.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

γ-β-Thalassaemia studies showing that deletion of the γ- and δ-genes influences β-globin gene expression in man

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

The spectrum of beta-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis

1 reference

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7 January 2021

Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

A novel deletion in the beta-globin gene complex

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Thalassaemia intermedia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

High frequencies of a rearrangement (+ATA; -T) at -530 to the beta-globin gene in different populations indicate the absence of a correlation with a silent beta-thalassemia determinant

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

Molecular basis of beta thalassemia in south China. Strategy for DNA analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980069-1

7 January 2021

10.1016/S0950-3536(05)80069-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353313%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

1 reference