Distal CCAAT box deletion in the A gamma globin gene of two black adolescents with elevated fetal A gamma globin (Q36074818)

12 August 2017

Distal CCAAT box deletion in the A gamma globin gene of two black adolescents with elevated fetal A gamma globin (English)

1 reference

12 August 2017

1 reference

J G Gilman

1

1 reference

12 August 2017

N Mishima

2

1 reference

12 August 2017

X J Wen

3

1 reference

12 August 2017

T A Stoming

4

1 reference

12 August 2017

J Lobel

5

1 reference

12 August 2017

T H Huisman

6

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12 August 2017

1 November 1988

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12 August 2017

language of work or name

English

0 references

published in

Nucleic Acids Research

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12 August 2017

16

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12 August 2017

22

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12 August 2017

10635-10642

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

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

The effects of HPFH mutations in the human gamma-globin promoter on binding of ubiquitous and erythroid specific nuclear factors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

DNA sequence variation associated with elevated fetal G gamma globin production

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

Developmental regulation of human globin genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

A history of the human fetal globin gene duplication

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

Dutch beta 0-thalassaemia: a 10 kilobase DNA deletion associated with significant gamma-chain production

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

A cellular DNA-binding protein that activates eukaryotic transcription and DNA replication

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

Haplotypes of beta S chromosomes among patients with sickle cell anemia from Georgia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=338929

Two independent genetic factors in the beta-globin gene cluster are associated with high G gamma-levels in the HbF of SS patients

23 September 2018

1 reference

12 December 2020

Fine structure genetic analysis of a beta-globin promoter

1 reference

12 December 2020

The detection of β-globin gene mutations in β-thalassemia using oligonucleotide probes and amplified DNA

1 reference

12 December 2020

A single-base change at position -175 in the 5'-flanking region of the G gamma-globin gene from a black with G gamma-beta+ HPFH

1 reference

12 December 2020

Four base-pair DNA deletion in human A gamma globin-gene promoter associated with low A gamma expression in adults

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/16.22.10635

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

2462713

1 reference