(Q39813814)

14 September 2017

1 reference

title

DNA polymorphism and molecular pathology of the human globin gene clusters. (English)

1 reference

14 September 2017

0 references

Stilianos Antonarakis

series ordinal

1

1 reference

14 September 2017

H H Kazazian

2

1 reference

PubMed ID

3881334

14 September 2017

S H Orkin

series ordinal

3

1 reference

14 September 2017

1 January 1985

1 reference

14 September 2017

1 reference

14 September 2017

69

1 reference

14 September 2017

1

1 reference

14 September 2017

1-14

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00295521

14 September 2017

0 references

cites work

Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance.

1 reference

12 December 2020

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

12 December 2020

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

1 reference

12 December 2020

Physical mapping of the globin gene deletion in (δβ)° - thalassaemia

1 reference

12 December 2020

Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster

1 reference

12 December 2020

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

1 reference

12 December 2020

Molecular cloning and characterization of the human beta-like globin gene cluster

1 reference

12 December 2020

Mutation in an intervening sequence splice junction in man

1 reference

12 December 2020

The isolation of structural genes from libraries of eucaryotic DNA

1 reference

12 December 2020

Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans

1 reference

12 December 2020

Five nucleotide changes in the large intervening sequence of a β globin gene in a β+thalassemia patient

1 reference

12 December 2020

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

1 reference

12 December 2020

Evolution of the hemoglobin S and C genes in world populations

1 reference

12 December 2020

beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box

1 reference

12 December 2020

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

1 reference

12 December 2020

Triplicated alpha-globin loci in humans

1 reference

12 December 2020

Molecular genetics of human hemoglobin

1 reference

12 December 2020

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

1 reference

12 December 2020

The sequence of the gorilla fetal globin genes: evidence for multiple gene conversions in human evolution.

1 reference

12 December 2020

Gene conversion between duplicated genetic elements in yeast

1 reference

12 December 2020

The molecular genetics of human hemoglobins

1 reference

12 December 2020

Hemoglobin Kenya, the product of fusion of γ and β polypeptide chains

1 reference

12 December 2020

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

1 reference

12 December 2020

Organization and expression of eucaryotic split genes coding for proteins

1 reference

12 December 2020

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

1 reference

12 December 2020

Chromosomal localization of human β globin gene on human chromosome 11 in somatic cell hybrids

1 reference

12 December 2020

The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication

1 reference

12 December 2020

Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence for multiple origins of the beta E-globin gene in Southeast Asia

1 reference

12 December 2020

Heterogeneity of DNA deletion in gamma delta beta-thalassemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

1 reference

12 December 2020

Gamma thalassemia resulting from the deletion of a gamma-globin gene

1 reference

12 December 2020

Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC

1 reference

12 December 2020

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

1 reference

12 December 2020

Major rearrangement in the human β-globin gene cluster

1 reference

12 December 2020

Duplication/deletion polymorphism 5′- to the human β globin gene

1 reference

12 December 2020

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

1 reference

12 December 2020

1 Directory of restriction endonucleases

1 reference

12 December 2020

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

1 reference

12 December 2020

Two types of triplicateda-globin loci in humans

1 reference

12 December 2020

Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue

1 reference

12 December 2020

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

1 reference

12 December 2020

Nonuniform recombination within the human beta-globin gene cluster: A reply to B. S. Weir and W. G. Hill.

1 reference

12 December 2020

Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA

1 reference

12 December 2020

Molecular basis of length polymorphism in the human zeta-globin gene complex

1 reference

12 December 2020

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

1 reference

12 December 2020

An intron nucleotide sequence variant in a cloned β+-thalassaemia globin gene

1 reference

12 December 2020

The nucleotide sequence of the human β-globin gene

1 reference

12 December 2020

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis

1 reference

12 December 2020

Alpha-thalassaemia caused by a polyadenylation signal mutation.

1 reference

12 December 2020

The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene

1 reference

12 December 2020

beta 0 thalassemia, a nonsense mutation in man

1 reference

12 December 2020

Molecular characterization of seven beta-thalassemia mutations in Asian Indians.

1 reference

12 December 2020

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

1 reference

12 December 2020

The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia

1 reference

12 December 2020

Association of two DNA polymorphisms in the alpha-globin gene cluster: implications for genetic analysis

1 reference

12 December 2020

Recombination and balanced chromosome polymorphism suggested by DNA sequences 5' to the human delta-globin gene

1 reference

12 December 2020

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

1 reference

12 December 2020

Multiple mutations produce delta beta 0 thalassemia in Sardinia.

1 reference

12 December 2020

Restriction Endonucleases in the Analysis and Restructuring of DNA Molecules

1 reference

12 December 2020

Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.

1 reference

12 December 2020

Highly variable regions of DNA flank the human alpha globin genes

1 reference

12 December 2020

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

1 reference

12 December 2020

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site

1 reference

12 December 2020

Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural analysis of a beta-thalassemia gene found in Taiwan

1 reference

12 December 2020

A catalogue of splice junction sequences

1 reference

12 December 2020

Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa

1 reference

12 December 2020

Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH)

1 reference

12 December 2020

Molecular basis of hemoglobin-H disease in the Mediterranean population

1 reference

12 December 2020

A history of the human fetal globin gene duplication

1 reference

12 December 2020

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

1 reference

12 December 2020

The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences.

1 reference

12 December 2020

"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.

1 reference

12 December 2020

Polymorphism and molecular pathology of the human beta-globin gene

1 reference

12 December 2020

ATA box transcription mutation in beta-thalassemia

1 reference

12 December 2020

A member of a new repeated sequence family which is conserved throughout eucaryotic evolution is found between the human δ and β globin genes

1 reference

12 December 2020

Cloning and complete nucleotide sequence of human 5'-alpha-globin gene

1 reference

12 December 2020

Haemoglobin Constant Spring--a chain termination mutant?

1 reference

12 December 2020

Gene conversion: some implications for immunoglobulin genes

1 reference

12 December 2020

mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.

1 reference

12 December 2020

Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene

1 reference

12 December 2020

Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations

1 reference

12 December 2020

beta zero thalassemia in Sardinia is caused by a nonsense mutation

1 reference

12 December 2020

Structure and expression of a cloned beta o thalassaemic globin gene

1 reference

12 December 2020

A new DNA polymorphism in the beta-globin gene cluster can be used for antenatal diagnosis of beta-thalassaemia

1 reference

12 December 2020

Intervening sequence of DNA identified in the structural portion of a mouse beta-globin gene

1 reference

12 December 2020

Detection of specific sequences among DNA fragments separated by gel electrophoresis

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

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

1 reference

12 December 2020

A common mutant EcoRI restriction endonuclease site in the 5' flanking portion of the human alpha-globin gene

1 reference

12 December 2020

Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene

1 reference

12 December 2020

Identification of a nondeletion defect in alpha-thalassemia

1 reference

12 December 2020

A New Genetic Basis for Hemoglobin-H Disease

1 reference

12 December 2020

DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man

1 reference

12 December 2020

Evidence supporting a single origin of the beta(C)-globin gene in blacks

1 reference

12 December 2020

Nonrandom association of polymorphic restriction sites in the β-globin gene cluster

1 reference

12 December 2020

Restriction mapping of a new deletion responsible forGγ(δβ)° thalassaemia

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00295521

1 reference

release_uxv5zwlyfvdf3dclw3api6umj4

14 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/uxv5zwlyfvdf3dclw3api6umj4

24 November 2022

mapped directly with Wikidata item

PubMed ID

3881334

1 reference

PubMed ID

3881334