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

No abstract is available for this paper.

• Publication year

  1974

• Venue

  Nature

• Publication date

  1974-10-04

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/251392A0
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Translation of mouse globin messenger ribonucleic acid from which the poly(adenylic acid) sequence has been removed.

  1974cited by this paper
• Hydroxyapatite Chromatography and Formamide Denaturation of Adenovirus DNA

  1973cited by this paper
• Quantitative deficiency of chain-specific globin messenger ribonucleic acids in the thalassemia syndromes.

  1973cited by this paper
• IQ Evoked Responses and Fourier Analysis

  1973cited by this paper
• Decreased globin messenger RNA activity associated with polyribosomes in thalassaemia.

  1973cited by this paper
• Purification of biologically active globin messenger RNA by chromatography on oligothymidylic acid-cellulose.

  1972cited by this paper
• Evidence for Single Copies of Globin Genes in the Mouse Genome

  1972cited by this paper
• Purification and characterization of the deoxyribonucleic acid polymerase associated with Rous sarcoma virus.

  1972cited by this paper
• Haemoglobin Constant Spring—A Chain Termination Mutant ?

  1971cited by this paper
• Deoxyribonucleic Acid Polymerase Associated with Avian Tumor Viruses: Secondary Structure of the Deoxyribonucleic Acid Product

  1971cited by this paper
• Identification of virus-specific RNA in cells infected with Rous sarcoma virus.

  1971cited by this paper
• Adenine-rich Polymer associated with Rabbit Reticulocyte Messenger RNA

  1970cited by this paper
• The inhibitory action of a mammalian viral RNA on the initiation of protein synthesis in a reticulocyte cell-free system.

  1970cited by this paper
• The Haemoglobin Constitution of Infants with the Haemoglobin Bart's Hydrops Foetalis Syndrome

  1970cited by this paper
• Globin chain synthesis in the alpha thalassemia syndromes.

  1968cited by this paper
• Repeated Sequences in DNA

  1968cited by this paper
• Alpha-chain thalassemia and hydrops fetalis in Malaya: report of five cases.

  1962cited by this paper

• Snrnp25 is a candidate for the peri-implantation lethal phenotype of the Hba deletions

  2025cites this paper
• Sir David John Weatherall. 9 March 1933—8 December 2018

  2023cites this paper
• Recent Drug-Repurposing-Driven Advances in the Discovery of Novel Antibiotics.

  2018cites this paper
• Triplicated a-globin loci in humans (restriction endonuclease mapping/unequal crossing-over/ai thalassemia/polymorphism)

  2016cites this paper
• Molecular Basis of Hemoglobin-HDisease in the

  2016cites this paper
• A Journey in Science: Early Lessons from the Hemoglobin Field

  2014cites this paper
• The role of the inherited disorders of hemoglobin, the first "molecular diseases," in the future of human genetics.

  2013cites this paper
• Pluripotent stem cells in research and treatment of hemoglobinopathies.

  2012cites this paper
• Prevalence and Disease Burden of Common Alpha Thalassemia Deletions in Malaysian Blood Donors: A multi ethnic population

  2012cites this paper
• Molecular medicine; the road to the better integration of the medical sciences in the twenty-first century

  2010cites this paper
• Molecular diagnosis of hemoglobinopathies and thalassemia

  2010cites this paper
• Thalassemia: an overview of 50 years of clinical research.

  2010cites this paper
• the problem of the number of human alpha loci Interaction between Hb Hasharon and alpha-thalassemia: an approach to

  2008cites this paper
• Yuet Wai Kan: Yuet Wai Kan

  2008cites this paper
• The fine-scale and complex architecture of human copy-number variation.

  2008cites this paper
• Alpha-Thalassaemia in Association with Beta-Thalassaemia Patients in Malaysia: A Study on the Co-Inheritance of Both Disorders

  2008cites this paper
• d-fl Locus: Further Family Data and Genetic Interpretations

  2006cites this paper
• Organization of α‐Globin Genes and mRNA Translation in Subjects Carrying Haemoglobin Hasharon (α47 Asp → His) from the Ferrara Region (Northern Italy)

  2005cites this paper
• Hb Bart ’ s Level in Cord Blood and Deletions of a-Globin Genes

  2005cites this paper
• 1 Disorders of haemoglobin: from phenotype to genotype

  2005cites this paper
• α-Globin gene deletion causes α-thalassemia syndromes in two German families

  2004cites this paper
• Hemoglobin Bart’s Hydrops Fetalis Syndrome

  2004cites this paper
• 2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problem.

  2004cites this paper
• αααanti-4.2 Haplotype and heterozygous β° thalassemia in a Sicilian family

  2004cites this paper
• Homozygous haemoglobin constant spring: A need for revision of concept

  2004cites this paper
• History of genetic disease: Thalassaemia: the long road from bedside to genome

  2004cites this paper
• Prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion with non-radioactive southern hybridization.

  2003cites this paper
• Prenatal diagnosis using fetal cells and free fetal DNA in maternal blood.

  2001cites this paper
• Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem.

  1998cites this paper
• Hydrops Fetalis Caused by α-Thalassemia: An Emerging Health Care Problem

  1998cites this paper
• Development of DNA analysis for human diseases. Sickle cell anemia and thalassemia as a paradigm.

  1992cites this paper
• The Interactions of α-Thalassemia with Hemoglobinopathies

  1991cites this paper
• Prenatal diagnosis of alpha- and beta-thalassaemias in Singapore--current status.

  1991cites this paper
• Prenatal diagnosis of α-thalassemia by polymerase chain reaction and dual restriction enzyme analysis

  1990cites this paper
• Prenatal diagnosis of homozygous α°‐thalassaemia by direct DNA analysis of chorionic villi in Singapore

  1989cites this paper
• The different types of alpha-thalassemia-2: genetic aspects.

  1988cites this paper
• Prenatal Diagnosis of α- and β-Thalassemias: Experience in Hong Kong

  1988cites this paper
• Dysfunctional α‐globin genes in hemoglobin H disease in blacks: Variation in restriction fragment size permits the detection of the ‐α/‐αT genotype

  1987cites this paper
• A cloned fragment of HeLa DNA containing consensus sequences of satellite II and III DNA hybridizes with the Drosophila P-element and with the 1.8 kb family of human KpnI fragments.

  1986cites this paper
• PERSISTENCE OR RAPID GENERATION OF DNA OF HUMANS LENGTH POLYMORPHISM AT THE ZETA-GLOBIN LOCUS

  1986cites this paper
• Diagnosis of alpha thalassaemia trait in different ethnic groups

  1986cites this paper
• Sickle cell anemia associated with α‐thalassemia in Malaysian Indians

  1986cites this paper
• βA and βthal DNA haplotypes in Sicily

  1986cites this paper
• Leftward deletion α-thalassaemia in the Saudi Arabian population

  1986cites this paper
• High frequency of triplicated α-globin loci and absence or low frequency of α thalassemia in Polynesian Samoans

  1985cites this paper
• Gene mapping of malaysian α thalassemias with α and ζ globin gene probes

  1985cites this paper
• Compound heterozygosity for two genotypes of alpha-thalassemia-2: hematological, biosynthetic and DNA studies.

  1985cites this paper
• Repeated first-trimester pregnancy loss: evaluation and management.

  1985cites this paper
• The Interaction of Coexistent α‐Thalassemia and Sickle Cell Anemia: A Model for the Clinical and Cellular Results of Diminished Polymerization? a

  1985cites this paper
• Prenatal diagnosis of hemoglobinopathies by DNA analysis.

  1985cites this paper
• Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

  1984cites this paper
• Prenatal diagnosis of homozygous alpha thalassaemia by direct DNA analysis of uncultured amniotic fluid cells.

  1984cites this paper
• Hematological phenotype of the double heterozygous state for alpha and beta thalassemia.

  1984cites this paper
• Hemoglobin Constitution of Double Heterozygotes for α or β-Thalassemia and HB J Sardegna

  1984cites this paper
• Methods to analyse the human genome

  1983cites this paper
• alpha-Thalassaemia in Apulia: biosynthetic studies.

  1983cites this paper
• Update on hemoglobinopathies.

  1983cites this paper
• Phenotype-genotype correlation in haemoglobin H disease in childhood.

  1983cites this paper
• The genetics of the sixth and seventh components of complement in the dog: Polymorphism, linkage, locus duplication, and silent alleles

  1983cites this paper
• Molecular mechanism accounting for milder types of thalassemia major.

  1983cites this paper
• "Bare lymphocytes" without immunodeficiency.

  1983cites this paper
• Hepatitis B Virus DNA in Liver and White Blood Cells of Patients with Hepatoma

  1983cites this paper
• Homozygous deletional α+ thalassaemia associated with unequal expression of the two remaining α1 genes (α1A and α1Q)

  1982cites this paper
• Influence of two α-Globin Gene Deletions on Homozygous β°-Thalassemia

  1982cites this paper
• Genetic diagnosis of the fetus

  1982cites this paper
• Organization of Normal and Abnormal Human Globin Genes by Restriction Enzyme Analysis

  1981cites this paper
• Polymorphism in the 5'-flanking region of the human insulin gene and its possible relation to type 2 diabetes.

  1981cites this paper
• Human liver aldehyde dehydrogenase in Chinese and Asiatic Indians: Gene deletion and its possible implications in alcohol metabolism

  1981cites this paper
• Direct gene analysis of chorionic villi: A possible technique for first-trimester antenatal diagnosis of haemoglobinopathies.

  1981cites this paper
• Functional implications of gene dosage effects in trisomy 21.

  1981cites this paper
• The Use of Cloned DNA Fragments to Study Human Disease

  1981cites this paper
• Human liver aldehyde dehydrogenases in chinese and indians: Gene deletion and its possible implications in alcohol metabolism

  1981cites this paper
• Hemogloblin α-gene duplication in macaques: Individual Macaca nemestrina with three structurally different α chains

  1981cites this paper
• The molecular genetics of thalassemia.

  1981cites this paper
• Disorders of human hemoglobin.

  1980cites this paper
• PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES *

  1980cites this paper
• Mapping the alpha-globin genes in an Algerian HbH patient and his family.

  1980cites this paper
• DETECTION OF GENE DEFECTS IN THE THALASSEMIAS AND RELATED DISORDERS *

  1980cites this paper
• Hematological and clinical features of sickle cell diseases: a review.

  1980cites this paper
• MOLECULAR MECHANISMS IN α THALASSEMIA: RACIAL DIFFERENCES IN α‐GLOBIN GENE ORGANIZATION *

  1980cites this paper
• Globin Chain Synthesis in Haemoglobin New York (β 113 Valine→Glutamic acid

  1980cites this paper
• Cellular regulation of fetal hemoglobin synthesis in man. Investigation of gamma and beta mRNA accumulation in clonal erythroid cultures initiated from erythroid progenitors derived from fetuses, neonates, and adult individuals.

  1980cites this paper
• NONSENSE MUTATION AS A CAUSE OF β THALASSEMIA *

  1980cites this paper
• The human alpha-globin gene. The protein products of the duplicated genes are identical.

  1980cites this paper
• A new genetic basis for hemoglobin-H disease.

  1980cites this paper
• THALASSEMIA IN THAILAND *

  1980cites this paper
• Determination of Alpha Thalassaemia Phenotypes by Messenger RNA Analysis

  1980cites this paper
• Effects of alpha thalassemia on mouse development.

  1980cites this paper
• The Genetic Basis of Hb Q‐H Disease

  1980cites this paper
• The molecular genetics of human hemoglobins.

  1980cites this paper
• Clinical implications of recent advances in hemoglobin disorders.

  1980cites this paper
• Hematological evaluation of patients with various combinations of α‐thalassemia

  1980cites this paper
• alpha-Thalassaemia in Sardinian infants.

  1980cites this paper
• Haemoglobin Bart's hydrops syndrome in Greece.

  1980cites this paper
• Recent developments in the molecular genetics of human hemoglobin.

  1979cites this paper
• Alpha Thalassaemia in American Blacks: a Study of a Family with Five Cases of Haemoglobin H Disease

  1979cites this paper
• Alpha Thalassaemia in Sicily: Haematological and Biosynthetic Studies

  1979cites this paper
• Human haemoglobin genetics.

  1979cites this paper
• Prenatal diagnosis of hemoglobinopathies and other hematologic diseases.

  1979cites this paper
• Acquired hemoglobin H disease in idiopathic myelofibrosis

  1979cites this paper