(Q33596738)

28 July 2017

title

Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene (English)

1 reference

https://api.crossref.org/works/10.1136/JMG.28.4.252

28 July 2017

1 reference

11 December 2022

1 reference

M. Losekoot

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856830

11 December 2022

R. Fodde

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856830

11 December 2022

C. L. Harteveld

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856830

11 December 2022

H. van Heeren

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856830

11 December 2022

P. C. Giordano

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856830

11 December 2022

L. N. Went

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856830

11 December 2022

L. F. Bernini

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856830

11 December 2022

language of work or name

English

0 references

publication date

1 April 1991

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016827

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856830

https://europepmc.org/articles/PMC1016827?pdf=render

11 December 2022

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%3A1856830

https://syndication.highwire.org/content/doi/10.1136/jmg.28.4.252

11 December 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.4.252

Journal of Medical Genetics

11 December 2022

published in

1 reference

28 July 2017

volume

28

1 reference

28 July 2017

issue

4

1 reference

28 July 2017

page(s)

252-255

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016827

Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016827

Detection and localization of single base changes by denaturing gradient gel electrophoresis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016827

Molecular basis and prenatal diagnosis of beta-thalassemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016827

Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1856830

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel ?� arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1856830

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Two novel polyadenylation mutations leading to beta(+)-thalassemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1856830

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

https://api.crossref.org/works/10.1136/JMG.28.4.252

4

1 reference

11 December 2022

Identifiers

DOI

10.1136/JMG.28.4.252

1 reference

28 July 2017

1 reference

28 July 2017

1 reference