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Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

The New England journal of medicine, 1990-12, Vol.323 (24), p.1685-1689

1990

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

Nature (London), 1984-07, Vol.310 (5973), p.152-154

1984

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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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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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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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Phenylketonuria in U.S. blacks : molecular analysis of the phenylalanine hydroxylase gene

American journal of human genetics, 1991-04, Vol.48 (4), p.791-798

1991

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A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the β-hexosaminidase α-subunit gene in two unrelated American black GM2-gangliosidosis (tay-sachs disease) patients

American journal of human genetics, 1991-06, Vol.48 (6), p.1181-1185

1991

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The molecular basis of genetic disease

Current opinion in biotechnology, 1990-12, Vol.1 (2), p.180-187

1990

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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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Brief Report: Hemoglobin Bart's Disease in an Italian Boy: Interaction between [alpha]-Thalassemia and Hereditary Persistence of Fetal Hemoglobin

The New England journal of medicine, 1990-07, Vol.323 (3), p.179

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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Brief Report: Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

The New England journal of medicine, 1990-12, Vol.323 (24), p.1685

1990

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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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Prenatal diagnosis of hemoglobinopathies by DNA analysis

Critical reviews in oncology/hematology, 1985, Vol.4 (2), p.155-167

1985

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On the Origin and Spread of β -thalassemia: Recurrent Observation of Four Mutations in Different Ethnic Groups

Proceedings of the National Academy of Sciences - PNAS, 1986-09, Vol.83 (17), p.6529-6532

1986

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Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

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

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

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

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

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

Phenylketonuria in U.S. blacks : molecular analysis of the phenylalanine hydroxylase gene

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the β-hexosaminidase α-subunit gene in two unrelated American black GM2-gangliosidosis (tay-sachs disease) patients

The molecular basis of genetic disease

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

Brief Report: Hemoglobin Bart's Disease in an Italian Boy: Interaction between [alpha]-Thalassemia and Hereditary Persistence of Fetal Hemoglobin

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

Brief Report: Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

The spectrum of β‐thalassaemia mutations in Sicily

Prenatal diagnosis of hemoglobinopathies by DNA analysis

On the Origin and Spread of β -thalassemia: Recurrent Observation of Four Mutations in Different Ethnic Groups

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