beta zero thalassemia in Sardinia is caused by a nonsense mutation (Q37004290)

17 August 2017

beta zero thalassemia in Sardinia is caused by a nonsense mutation (English)

1 reference

17 August 2017

1 reference

R F Trecartin

1

1 reference

17 August 2017

S A Liebhaber

2

1 reference

17 August 2017

J C Chang

3

1 reference

17 August 2017

K Y Lee

4

1 reference

17 August 2017

Y W Kan

5

1 reference

17 August 2017

M Furbetta

6

1 reference

17 August 2017

A Angius

7

1 reference

17 August 2017

A Cao

8

1 reference

17 August 2017

language of work or name

English

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publication date

1 October 1981

1 reference

Journal of Clinical Investigation

17 August 2017

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17 August 2017

68

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17 August 2017

4

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17 August 2017

1012-1017

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Beta-Thalassaemia types in southern Sardinia

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

The molecular genetics of human hemoglobins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Heterogeneity of DNA deletion in gamma delta beta-thalassemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Globin chain synthesis in the alpha thalassemia syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

An efficient mRNA-dependent translation system from reticulocyte lysates

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

The structure of the human β-globin gene in β-thalassaemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Molecular Genetics of Human Hemoglobin Synthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Prolonged incubation in calcium chloride improves the competence of Escherichia coli cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Recent developments in the molecular genetics of human hemoglobin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Factors affecting the transformation of Escherichia coli strain χ1776 by pBR322 plasmid DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Insertion of synthetic copies of human globin genes into bacterial plasmids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Authentic beta-globin mRNA sequences in homozygous betaO-thalassemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

A new method for sequencing DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Nucleic acid hybridization using DNA covalently coupled to cellulose

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

beta 0 thalassemia, a nonsense mutation in man

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Absence of messenger RNA and gene DNA for beta-globin chains in hereditary persistence of fetal hemoglobin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Variability in the amount of beta-globin mRNA in beta0 thalassemia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Suppression of the nonsense mutation in homozygous beta 0 thalassaemia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Deletion of the β-globin structure gene in hereditary persistence of foetal haemoglobin

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Structure of cloned DNA complementary to rat prolactin messenger RNA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

The nucleotide sequence of the human β-globin gene

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370888

Deletion of alpha-globin genes in haemoglobin-H disease demonstrates multiple alpha-globin structural loci

4 September 2018

1 reference

12 December 2020

Disorders of human hemoglobin

1 reference

12 December 2020

γ-β-Thalassaemia studies showing that deletion of the γ- and δ-genes influences β-globin gene expression in man

1 reference

12 December 2020

Beta Thalassemia: mutations which affect processing of the beta-Globin mRNA precursor

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI110323

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

6457059

1 reference