(Q35692432)

9 August 2017

A beta-thalassemia lesion abolishes the same Mst II site as the sickle mutation (English)

1 reference

9 August 2017

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

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1093/NAR/11.22.7789

26 September 2023

1 reference

1 reference

https://api.crossref.org/works/10.1093/NAR/11.22.7789

26 September 2023

author name string

J. C. Chang

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6316272

26 September 2023

A. Alberti

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6316272

26 September 2023

Y. W. Kan

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6316272

26 September 2023

language of work or name

English

0 references

publication date

1 November 1983

1 reference

9 August 2017

25 November 1983

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6316272

full work available at URL

26 September 2023

https://europepmc.org/articles/pmc326534?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6316272

https://europepmc.org/articles/PMC326534

26 September 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6316272

https://europepmc.org/articles/PMC326534?pdf=render

26 September 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6316272

http://academic.oup.com/nar/article-pdf/11/22/7789/7048644/11-22-7789.pdf

26 September 2023

file format

Portable Document Format

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1093/NAR/11.22.7789

26 September 2023

published in

Nucleic Acids Research

1 reference

9 August 2017

11

1 reference

9 August 2017

22

1 reference

9 August 2017

7789-7794

1 reference

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

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

beta zero thalassemia in Sardinia is caused by a nonsense mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

ATA box transcription mutation in beta-thalassemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

Use of restriction endonucleases for mapping the allele for beta s-globin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

Five nucleotide changes in the large intervening sequence of a β globin gene in a β+thalassemia patient

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

Two cloned β thalassemia genes are associated with amber mutations at codon 39

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

Structure and expression of a cloned beta o thalassaemic globin gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

12 July 2018

Thalassemia Revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

A new method for sequencing DNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

beta 0 thalassemia, a nonsense mutation in man

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

The nucleotide sequence of the human β-globin gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=326534

High capacity gel preparative electrophoresis for purification of fragments of genomic DNA

25 September 2018

1 reference

12 December 2020

DNA analysis in the diagnosis of hemoglobin disorders

1 reference

12 December 2020

beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box

1 reference

12 December 2020

A Sensitive New Prenatal Test for Sickle-Cell Anemia

1 reference

12 December 2020

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural analysis of a beta-thalassemia gene found in Taiwan

1 reference

12 December 2020

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

1 reference

12 December 2020

A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII

1 reference

12 December 2020

Identifiers

DOI

1 reference

release_rhjp7t2qtrf3nl3nqpjx3ym6oe

9 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rhjp7t2qtrf3nl3nqpjx3ym6oe

24 November 2022

mapped directly with Wikidata item

PMCID

326534

1 reference

9 August 2017

1 reference