(Q41566916)

3 October 2017

The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39 (English)

1 reference

PMCID

557427

3 October 2017

The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C--T nonsense mutation at codon 39 (English)

1 reference

Crossref

https://api.crossref.org/works/10.1002/J.1460-2075.1984.TB01885.X

29 September 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6327288

29 September 2023

author name string

S. Guida

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6327288

29 September 2023

B. Giglioni

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6327288

29 September 2023

P. Comi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6327288

29 September 2023

S. Ottolenghi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6327288

29 September 2023

C. Camaschella

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6327288

29 September 2023

G. Saglio

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6327288

29 September 2023

language of work or name

English

0 references

publication date

1 April 1984

1 reference

PMCID

557427

full work available at URL

3 October 2017

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/j.1460-2075.1984.tb01885.x

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%3A6327288

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6327288/?tool=EBI

29 September 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6327288

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6327288/pdf/?tool=EBI

29 September 2023

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%3A6327288

https://europepmc.org/articles/PMC557427

29 September 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6327288

https://europepmc.org/articles/PMC557427?pdf=render

29 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%3A6327288

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fj.1460-2075.1984.tb01885.x

29 September 2023

1 reference

Crossref

https://api.crossref.org/works/10.1002/J.1460-2075.1984.TB01885.X

http://onlinelibrary.wiley.com/wol1/doi/10.1002/j.1460-2075.1984.tb01885.x/fullpdf

29 September 2023

1 reference

Crossref

https://api.crossref.org/works/10.1002/J.1460-2075.1984.TB01885.X

29 September 2023

1 reference

3 October 2017

3

1 reference

3 October 2017

785-787

1 reference

3 October 2017

4

1 reference

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

3 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

beta zero thalassemia in Sardinia is caused by a nonsense mutation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Structure and expression of a cloned beta o thalassaemic globin gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

57 Sequencing end-labeled DNA with base-specific chemical cleavages

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

The deletion in a type of δ0-β0-thalassaemia begins in an inverted AluI repeat

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

High Hb F levels in a Sardinian family: a genetic defect intermediate between HPFH Greek type and delta beta-thalassemia?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Delta beta (F)-thalassaemia in Sardinia

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

The control of globin and other eukaryotic genes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH)

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Restriction endonuclease mapping of the human γ globin gene loci

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Characterisation of deletions which affect the expression of fetal globin genes in man

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Globin gene deletion in HPFH, δ°β° thalassaemia and Hb Lepore disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Occurrence ofGγ Hb F in Greek HPFH: Analysis of Heterozygotes and Compound Heterozygotes with β Thalassaemia

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Evolution of sickle variant gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN IN GREECE. A STUDY AND A COMPARISON.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=557427

Globin Chain Synthesis in the Greek Type (Aγ) of Hereditary Persistence of Fetal Haemoglobin

19 August 2018

1 reference

12 December 2020

Physical mapping of the globin gene deletion in (δβ)° - thalassaemia

1 reference

12 December 2020

Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin

1 reference

12 December 2020

Major rearrangement in the human β-globin gene cluster

1 reference

12 December 2020

Restriction endonuclease maps of the β-like globin gene cluster in the British and Greek forms of HPFH, and for one example ofGγβ+HPFH

1 reference

12 December 2020

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6327288

29 September 2023

1 reference

3 October 2017

1 reference

PMCID

557427