(Q42654122)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

title

Phenotype-genotype correlation in haemoglobin H disease in childhood (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

author name string

R Galanello

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

M Pirastu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

M A Melis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

E Paglietti

4

1 reference

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9 October 2019

P Moi

5

1 reference

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9 October 2019

A Cao

6

1 reference

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9 October 2019

language of work or name

English

0 references

publication date

1 December 1983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

9 October 2019

published in

1 reference

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9 October 2019

volume

20

1 reference

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9 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

page(s)

425-429

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype

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=1049173

Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Mutation in an intervening sequence splice junction in man

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Genetic and molecular diversity in nondeletion Hb H disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Characterisation of a new α thalassemia 1 defect due to a partial deletion of the α globin gene complex

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Globin chain synthesis in the alpha thalassemia syndromes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Reliable routine estimation of small amounts of foetal haemoglobin by alkali denaturation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Detection of specific sequences among DNA fragments separated by gel electrophoresis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Nucleotide sequence of the rightward operator of phage lambda

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

The molecular basis of α-thalassemias: Frequent occurrence of dysfunctional α loci among non-Asians with Hb H disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Insertion of synthetic copies of human globin genes into bacterial plasmids

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

The duplicated human alpha globin genes lie close together in cellular DNA

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

The α-chain-termination mutants and their relation to the α-thalassaemias

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049173

Haemoglobin-H disease due to a unique haemoglobin variant with an elongated alpha-chain

27 May 2018

1 reference

12 December 2020

Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)

1 reference

12 December 2020

Microchromatography of hemoglobins. II. A simplified procedure for the determination of hemoglobin A2

1 reference

12 December 2020

Identification of a nondeletion defect in alpha-thalassemia

1 reference

12 December 2020

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion

1 reference

12 December 2020

Molecular basis of hemoglobin-H disease in the Mediterranean population

1 reference

12 December 2020

A New Genetic Basis for Hemoglobin-H Disease

1 reference

12 December 2020

Globin structural mutant α125Leu→Pro is a novel cause of α-thalassaemia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.20.6.425

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6317863%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

PubMed publication ID

6317863

1 reference