(Q39006484)

8 September 2017

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title

Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants (English)

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8 September 2017

1

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8 September 2017

R M Harding

2

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PubMed ID

8462981

8 September 2017

J B Clegg

series ordinal

3

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PubMed ID

8462981

8 September 2017

A J Boyce

series ordinal

4

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8 September 2017

1 March 1993

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8 September 2017

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8 September 2017

91

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8 September 2017

91-117

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8 September 2017

2

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https://scigraph.springernature.com/pub.10.1007/bf00222709

8 September 2017

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12 December 2020

Distribution of beta-thalassemia mutations in south China and their association with haplotypes

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DNA haplotype distribution in Algerian beta thalassaemia patients. An extended evaluation by family studies and representative molecular characterization

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Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA

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The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population

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Genetic and fossil evidence for the origin of modern humans

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

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Characteristics and distribution of beta thalassemia haplotypes in South China

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Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow

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12 December 2020

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

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Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications

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12 December 2020

PRENATAL DIAGNOSIS OF BETA-THALASSAEMIA WITH THE SYNTHETIC-OLIGOMER TECHNIQUE

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12 December 2020

Haplotypes in tribal Indians bearing the sickle gene: evidence for the unicentric origin of the beta S mutation and the unicentric origin of the tribal populations of India

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Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation.

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Population and genetic studies suggest a single origin for the Indian deletion beta thalassaemia

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12 December 2020

Homozygous Hb J Tongariki: Evidence for Only One Alpha Chain Structural Locus in Melanesians

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12 December 2020

Mediterranean types of beta-thalassemia in the German population

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12 December 2020

Beta-globin gene haplotypes in the Saudi sickle cell anaemia patients

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12 December 2020

Multiple origins of the sickle mutation: evidence from beta S globin gene cluster polymorphisms

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12 December 2020

Abnormal hemoglobins in the Silk Road region of China

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12 December 2020

Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major

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12 December 2020

Polynesian origins and affinities: globin gene variants in eastern Polynesia.

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12 December 2020

Pleistocene dates for the human occupation of New Ireland, northern Melanesia

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12 December 2020

Recombination within the human embryonic xi-globin locus: a common xi-xi chromosome produced by gene conversion of the psi xi gene

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12 December 2020

The peculiar spectrum of beta-thalassemia genes in Tunisia

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12 December 2020

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

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12 December 2020

Genetic epidemiology of structural mutations of the beta-globin gene

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12 December 2020

The spectrum of beta-thalassaemia in Burma

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12 December 2020

Globin genes are useful markers to identify genetic similarities between Fijians and Pacific Islanders from Polynesia and Melanesia

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12 December 2020

Genotypes of thalassemia major and intermedia in Italy

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12 December 2020

Alpha-thalassemia in Papua New Guinea.

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12 December 2020

Beta thalassaemia mutations in Turkish Cypriots

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12 December 2020

Feasibility of prenatal diagnosis of beta thalassaemia by DNA polymorphisms in an Italian population

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12 December 2020

Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing

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12 December 2020

A 40,000 year-old human occupation site at Huon Peninsula, Papua New Guinea

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12 December 2020

A novel sickle cell mutation of yet another origin in Africa: the Cameroon type

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12 December 2020

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

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12 December 2020

Feasibility of antenatal diagnosis of beta thalassaemia by DNA polymorphisms in Asian Indian and Cypriot populations

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12 December 2020

Newborn screening for phenylketonuria in eleven districts

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12 December 2020

The spectrum of beta-thalassemia mutations in northern and northeastern Thailand

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12 December 2020

Beta-thalassemia in Chinese--analysis of polymorphic restriction site haplotypes in the beta-globin gene cluster

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12 December 2020

The molecular basis of beta thalassaemia in Bulgaria

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Delineation of specific beta-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis

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Beta thalassaemia mutations in the Turkish population.

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Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan

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New considerations on the distribution of malaria, thalassemia, and glucose-6-phosphate dehydrogenase deficiency in Sardinia.

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12 December 2020

Drift, admixture, and selection in human evolution: a study with DNA polymorphisms

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12 December 2020

The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis

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12 December 2020

Independent recombination events between the duplicated human α globin genes; implications for their concerted evolution

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12 December 2020

Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Melanesians and Polynesians share a unique alpha-thalassemia mutation

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12 December 2020

Thalassaemia, Glucose-6-Phosphate Dehydrogenase Deficiency, Sickling, and Malarial Endemicity in Greece: A Study of Five Areas

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12 December 2020

?-Globin gene linked DNA haplotypes and frameworks in three South-East Asian populations

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12 December 2020

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

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12 December 2020

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

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12 December 2020

The molecular basis for the clinical diversity of beta thalassaemia in Cypriots

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12 December 2020

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

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12 December 2020

Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.

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12 December 2020

Hemoglobinopathies in Southeast Asia

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12 December 2020

Beta-thalassemia in Turkey

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12 December 2020

Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States

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12 December 2020

Identification of a recent recombination event within the human beta-globin gene cluster

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12 December 2020

Sickling in relation to morbidity from malaria and other diseases

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12 December 2020

Population genetics of haemoglobin variants, thalassaemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to the malaria hypothesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Beta-thalassemia mutations in the Portuguese population

1 reference

12 December 2020

Nonuniform recombination within the human beta-globin gene cluster

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12 December 2020

Call for a worldwide survey of human genetic diversity: A vanishing opportunity for the Human Genome Project

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12 December 2020

Spontaneous mutation in beta-thalassaemia producing the same nucleotide substitution as that in a common hereditary form

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12 December 2020

Reconstruction of human evolution: bringing together genetic, archaeological, and linguistic data

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12 December 2020

STUDIES ON THE DISTRIBUTION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY, THALASSEMIA, AND OTHER GENETIC TRAITS IN THE COASTAL AND MOUNTAIN VILLAGES OF CYPRUS

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12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

1 reference

12 December 2020

A study of the cause of the high incidence of phenylketonuria in Ireland and west Scotland

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12 December 2020

Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus

1 reference

12 December 2020

A review of the molecular genetics of the human alpha-globin gene cluster

1 reference

12 December 2020

Characterization of a spontaneous mutation to a beta-thalassemia allele

1 reference

12 December 2020

Globin gene mapping studies in Sardinian patients homozygous for beta zero Thalassaemia

1 reference

12 December 2020

Beta-thalassemia mutations in Sicily

1 reference

12 December 2020

Beta A and beta thal DNA haplotypes in Sicily

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12 December 2020

Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples

1 reference

12 December 2020

Beta-thalassemia in Yugoslavia

1 reference

12 December 2020

Length and distribution of meiotic gene conversion tracts and crossovers in Saccharomyces cerevisiae

1 reference

12 December 2020

Molecular studies of beta-thalassemic DNA of Chinese patients

1 reference

12 December 2020

Globin genes in Polynesians have many rearrangements including a recently described gamma gamma gamma gamma/.

1 reference

12 December 2020

Duplication/deletion polymorphism 5' - to the human beta globin gene

1 reference

12 December 2020

Beta-thalassaemia in Campania: DNA polymorphism analysis in beta A and beta thal chromosomes and its usefulness in prenatal diagnosis

1 reference

12 December 2020

Recombination hot spot in the human beta-globin gene cluster: meiotic recombination of human DNA fragments in Saccharomyces cerevisiae

1 reference

12 December 2020

Population bottlenecks in Polynesia revealed by minisatellites

1 reference

12 December 2020

Alpha-globin gene haplotypes in Polynesians: their relationships to population groups and gene rearrangements

1 reference

12 December 2020

Molecular characterization of beta-globin gene mutations in patients with beta-thalassaemia intermedia in south China

1 reference

12 December 2020

Characterization of G6PD deficiency and thalassaemia in Papua New Guinea

1 reference

12 December 2020

Gene conversions and their relation to homologous chromosome pairing

1 reference

12 December 2020

The spectrum of β-thalassaemia mutations in Sicily

1 reference

12 December 2020

High frequency of triplicated alpha-globin loci and absence or low frequency of alpha thalassemia in Polynesian Samoans.

1 reference

12 December 2020

Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis

1 reference

12 December 2020

Molecular heterogeneity of beta thalassaemia in the Italian population

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12 December 2020

Different hematologic phenotypes are associated with the leftward (-alpha 4.2) and rightward (-alpha 3.7) alpha+-thalassemia deletions

1 reference

12 December 2020

Molecular basis of beta-thalassemia in Thailand

1 reference

12 December 2020

Common west African HLA antigens are associated with protection from severe malaria

1 reference

12 December 2020

Sickle hemoglobinopathies in Sicily

1 reference

12 December 2020

Molecular characterization of thalassemia intermedia in Italy

1 reference

12 December 2020

Simulation of the diffusion of the beta-globin variants in the Old World

1 reference

12 December 2020

The spectrum of beta-thalassemia genes in China and Southeast Asia

1 reference

12 December 2020

POLYMORPHISM AND NATURAL SELECTION IN HUMAN POPULATIONS.

1 reference

12 December 2020

Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination

1 reference

12 December 2020

The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

1 reference

12 December 2020

Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster

1 reference

12 December 2020

Beta S haplotypes in various world populations

1 reference

12 December 2020

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

1 reference

12 December 2020

A single origin of phenylketonuria in Yemenite Jews

1 reference

12 December 2020

Genetic Recombination: Strand Transfer and Mismatch Repair

1 reference

12 December 2020

The frequency and origin of the sickle cell mutation in the district of Coruche/Portugal

1 reference

12 December 2020

Extremely high frequencies of alpha-globin gene deletion in Madang and on Kar Kar Island, Papua New Guinea

1 reference

12 December 2020

Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay

1 reference

12 December 2020

Beta-thalassemia mutations in Indonesia and their linkage to beta haplotypes

1 reference

12 December 2020

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups

1 reference

12 December 2020

Meiotic recombination in yeast: alteration by multiple heterozygosities

1 reference

12 December 2020

Founder effect of a prevalent phenylketonuria mutation in the Oriental population

1 reference

12 December 2020

The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis

1 reference

12 December 2020

beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis

1 reference

12 December 2020

Haplotypes and alpha globin gene analyses in sickle cell anaemia patients from Kenya

1 reference

12 December 2020

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

1 reference

12 December 2020

Alpha-globin gene markers identify genetic differences between Australian aborigines and Melanesians

1 reference

12 December 2020

Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms

1 reference

12 December 2020

A gradient of sequence divergence in the human adult alpha-globin duplication units.

1 reference

12 December 2020

High frequencies of alpha-thalassaemia are the result of natural selection by malaria

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12 December 2020

Extent and high frequency of a short conversion between the human A? and G? fetal globin genes

1 reference

12 December 2020

Beta-globin gene disorders in Italy and the Mediterranean area

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12 December 2020

Molecular basis of beta thalassemia in south China. Strategy for DNA analysis

1 reference

12 December 2020

DNA haplotype heterogeneity of beta-thalassaemia in Greece: feasibility of prenatal diagnosis

1 reference

12 December 2020

Disorders of haemoglobin in China.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00222709

1 reference

8 September 2017

1 reference

PubMed ID

8462981