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Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Nature (London), 1987-11, Vol.330 (6146), p.384-386

1987

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

Nature (London), 1982-04, Vol.296 (5858), p.627-631

1982

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

Nature (London), 1982-12, Vol.300 (5894), p.768-769

1982

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DNA polymorphism and molecular pathology of the human globin gene clusters

Human genetics, 1985, Vol.69 (1), p.1-14

1985

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Phylogeny of human β-globin haplotypes and its implications for recent human evolution

American journal of physical anthropology, 1990-01, Vol.81 (1), p.113-130

1990

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Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

Proceedings of the National Academy of Sciences - PNAS, 1991-01, Vol.88 (1), p.310-314

1991

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The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

British journal of haematology, 1994-02, Vol.86 (2), p.372-376

1994

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Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

Blood, 1992-06, Vol.79 (11), p.3014-3018

1992

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Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events

American journal of human genetics, 1994-05, Vol.54 (5), p.836-843

1994

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Gene Defects in β-Thalassemia and Their Prenatal Diagnosis

Annals of the New York Academy of Sciences, 1990-12, Vol.612 (1), p.1-14

1990

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Two Mutations in the β-Globin Polyadenylylation Signal Reveal Extended Transcripts and New RNA Polyadenylylation Sites

Proceedings of the National Academy of Sciences - PNAS, 1992-05, Vol.89 (10), p.4324-4328

1992

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Origin of the βS-globin Gene in Blacks: The Contribution of Recurrent Mutation or Gene Conversion or Both

Proceedings of the National Academy of Sciences - PNAS, 1984-02, Vol.81 (3), p.853-856

1984

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β -thalassemia in American Blacks: Novel Mutations in the ``TATA'' Box and an Acceptor Splice Site

Proceedings of the National Academy of Sciences - PNAS, 1984-02, Vol.81 (4), p.1154-1158

1984

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β -thalassemia in Chinese: Use of in vivo RNA Analysis and Oligonucleotide Hybridization in Systematic Characterization of Molecular Defects

Proceedings of the National Academy of Sciences - PNAS, 1984-05, Vol.81 (9), p.2821-2825

1984

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Chinese Aγ Fetal Hemoglobin: C to T Substitution at Position — 196 of the Aγ Gene Promoter

Blood, 1986-06, Vol.67 (6), p.1777-1779

1986

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Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T

Human mutation, 1995, Vol.5 (3), p.275-276

1995

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Isolation and characterization of the translation product of a β‐globin gene nonsense mutation (β121 GAA→TAA)

British journal of haematology, 1990-08, Vol.75 (4), p.561-567

1990

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The same TATA box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

Human genetics, 1986-10, Vol.74 (2), p.162-164

1986

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The spectrum of β‐thalassaemia mutations in Sicily

British journal of haematology, 1988-07, Vol.69 (3), p.393-397

1988

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A New Mutation in IVS-1 of the Human β Globin Gene Causing β Thalassemia Due to Abnormal Splicing

Blood, 1987-07, Vol.70 (1), p.147-151

1987

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ATA box transcription mutation in β-thalassemia

Nucleic acids research, 1983-07, Vol.11 (14), p.4727-4734

1983

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Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

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

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

DNA polymorphism and molecular pathology of the human globin gene clusters

Phylogeny of human β-globin haplotypes and its implications for recent human evolution

Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events

Gene Defects in β-Thalassemia and Their Prenatal Diagnosis

Two Mutations in the β-Globin Polyadenylylation Signal Reveal Extended Transcripts and New RNA Polyadenylylation Sites

Origin of the βS-globin Gene in Blacks: The Contribution of Recurrent Mutation or Gene Conversion or Both

β -thalassemia in American Blacks: Novel Mutations in the ``TATA'' Box and an Acceptor Splice Site

β -thalassemia in Chinese: Use of in vivo RNA Analysis and Oligonucleotide Hybridization in Systematic Characterization of Molecular Defects

Chinese Aγ Fetal Hemoglobin: C to T Substitution at Position — 196 of the Aγ Gene Promoter

Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T

Isolation and characterization of the translation product of a β‐globin gene nonsense mutation (β121 GAA→TAA)

The same TATA box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

The spectrum of β‐thalassaemia mutations in Sicily

A New Mutation in IVS-1 of the Human β Globin Gene Causing β Thalassemia Due to Abnormal Splicing

ATA box transcription mutation in β-thalassemia

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