(Q44534771)

3 December 2017

title

The beta- and delta-thalassemia repository (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1517101

4 October 2022

author name string

T. H. Huisman

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1517101

4 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1517101

4 October 2022

publication date

1 January 1992

1 reference

3 December 2017

1 reference

3 December 2017

volume

16

1 reference

3 December 2017

issue

4

1 reference

3 December 2017

page(s)

237-258

1 reference

The thalassemia repository

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

beta 0 thalassemia, a nonsense mutation in man

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

The peculiar spectrum of beta-thalassemia genes in Tunisia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

A new beta-thalassaemia frameshift mutation detected by PCR after selective hybridization to immobilized oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Molecular heterogeneity of beta-thalassemia in mestizo Mexicans

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Beta-thalassemia due to a T----A mutation within the ATA box.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Molecular characterization of Hb S(C) beta-thalassemia in American blacks

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Characterization of beta-thalassemia mutations among the Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Compound heterozygosity for a β∘-thalassemia (frameshift codons 38/39; -C) and a nondeletional swiss type of HPFH (A→C at NT -110, Gγ) in a Czechoslovakian family

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

An initiation codon mutation as a cause of a beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Beta-thalassemia intermedia in two Turkish families is caused by the interaction of Hb Knossos [beta 27(B9)Ala----Ser] and of Hb City of Hope [beta 69(E13)Gly----ser] with beta (0)-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

The G→A Mutation at Position +22 31to the Cap Site of the β-Globin Gene as a Possible Cause for a β-Thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Beta-thalassemia in Turkey

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

ATA box transcription mutation in beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

The beta zero-thalassemia in an American black family is due to a single nucleotide substitution in the acceptor splice junction of the second intervening sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

A spontaneous deletion of beta 33/34 Val in exon 2 of the beta globin gene (Hb Korea) produces the phenotype of dominant beta thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

A novel frameshift mutation causing beta-thalassaemia in Azerbaijan.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Molecular basis for dominantly inherited inclusion body beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

beta zero thalassemia in Sardinia is caused by a nonsense mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

An intron nucleotide sequence variant in a cloned β+-thalassaemia globin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

The structure of the human β-globin gene in β-thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

A > 200 kb deletion removing the entire β-like globin gene cluster in a family of Irish Descent

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Dutch beta 0-thalassaemia: a 10 kilobase DNA deletion associated with significant gamma-chain production

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

A New β-Thalassemia Mutation Produced by a Single Nucleotide Substitution in the Conserved Dinucleotide Sequence of the IVS-I Consensus Acceptor Site (Ag→AA)

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03630269208998865

10.3109/03630269208998865

21 January 2018

Identifiers

DOI

1 reference

3 December 2017

1 reference