(Q35203297)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6310991%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

title

beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6310991%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

1 reference

chromosomal deletion syndrome

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6310991

24 September 2023

author name string

H. H. Kazazian

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6310991

24 September 2023

S. H. Orkin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6310991

24 September 2023

C. D. Boehm

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6310991

24 September 2023

J. P. Sexton

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6310991

24 September 2023

S. E. Antonarakis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6310991

24 September 2023

language of work or name

English

0 references

publication date

1 September 1983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6310991%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

number of pages

6

1 reference

full work available at URL

inferred from page(s)

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6310991/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6310991

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6310991/pdf/?tool=EBI

24 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%3A6310991

https://europepmc.org/articles/PMC1685822

24 September 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6310991

https://europepmc.org/articles/PMC1685822?pdf=render

24 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%3A6310991

American Journal of Human Genetics

24 September 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6310991%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6310991%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6310991%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

page(s)

1028-1033

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6310991%20AND%20SRC:MED&resulttype=core&format=json

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

9 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

The structure and evolution of the human beta-globin gene family

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

13 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=1685822

Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

Cloning human fetal gamma globin and mouse alpha-type globin DNA: preparation and screening of shotgun collections

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

Gel electrophoresis of restriction fragments

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685822

Haemoglobin Leiden: Deletion of β6 or 7 Glutamic Acid

13 July 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Antenatal diagnosis of sickle cell anaemia by direct analysis of the sickle mutation

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

Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6310991%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

1 reference