Nonsense mutations in the human beta-globin gene affect mRNA metabolism.

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

A new technique for the assay of infectivity of human adenovirus 5 DNA

1973 • 9,740 citations

[19] Rapid and efficient site-specific mutagenesis without phenotypic selection

1987 • 5,413 citations

[2] New M13 vectors for cloning

1983 • 5,402 citations

Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene.

1975 • 3,483 citations

SV40-transformed simian cells support the replication of early SV40 mutants

1981 • 2,564 citations

[32] Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors

1983 • 1,093 citations

The isolation and characterization of linked δ- and β-globin genes from a cloned library of human DNA

1978 • 1,055 citations

Identification of DNA sequences required for transcription of the human α1-globin gene in a new SV40 host-vector system

1981 • 624 citations

Control of Transcription Termination

1978 • 618 citations

Translation is required for regulation of histone mRNA degradation

1987 • 345 citations

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

1985 • 301 citations

beta 0 thalassemia, a nonsense mutation in man.

1979 • 291 citations

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.

1987 • 282 citations

beta zero thalassemia in Sardinia is caused by a nonsense mutation.

1981 • 192 citations

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

1981 • 129 citations

Beta O-39 thalassemia gene: a premature termination codon causes beta- mRNA deficiency without affecting cytoplasmic beta-mRNA stability

1984 • 106 citations

Intranuclear defect in beta-globin mRNA accumulation due to a premature translation termination codon

1984 • 102 citations

Structure and expression of a cloned β°thalassaemic globin gene

1981 • 85 citations

Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain.

1976 • 65 citations

Variability in the amount of β-globin mRNA in β0 thalassemia

1978 • 63 citations

Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron.

1986 • 52 citations

Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).

1987 • 51 citations

Two cloned β thalassemia genes are associated with amber mutations at codon 39

1981 • 33 citations

Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).

1975 • 29 citations

HB Vaasa or α₂β₂(39(C5)CLN→GLU), A Mildly Unstable Variant Found in a Finnish Family

1977 • 28 citations

A new nonsense mutation as the molecular basis for β° thalassaemia

1982 • 25 citations

Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family [published erratum appears in Blood 1986 Jul;68(1):323]

1986 • 21 citations