Mechanisms of insertional mutagenesis in human genes causing genetic disease

Identification of a Chromosome 18q Gene that Is Altered in Colorectal Cancers

1990 • 1,747 citations

Frameshift Mutations and the Genetic Code

1966 • 1,400 citations

The structure and evolution of the human β-globin gene family

1980 • 1,398 citations

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

1988 • 883 citations

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1991 • 491 citations

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1990 • 386 citations

Insertional mutagenesis of the myc locus by a LINE-1 sequence in a human breast carcinoma

1988 • 320 citations

The mutational specificity of DNA polymerase-beta during in vitro DNA synthesis. Production of frameshift, base substitution, and deletion mutations.

1985 • 317 citations

The base substitution fidelity of eucaryotic DNA polymerases. Mispairing frequencies, site preferences, insertion preferences, and base substitution by dislocation.

1986 • 301 citations

The Structure and Evolution of the Human /?-Globin Gene Family

1980 • 301 citations

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1987 • 293 citations

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1989 • 286 citations

Highly preferred targets for retrovirus integration

1988 • 262 citations

Haemophilia B: database of point mutations and short additions and deletions--second edition

1991 • 229 citations

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

1988 • 226 citations

LINE-1: A mammalian transposable element

1987 • 224 citations

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

1989 • 206 citations

Revision of consensus sequence of human Alu repeats — a review

1987 • 203 citations

Model for the participation of quasi-palindromic DNA sequences in frameshift mutation.

1982 • 199 citations

Base substitutions, frameshifts, and small deletions constitute ionizing radiation-induced point mutations in mammalian cells.

1988 • 191 citations

The mutational specificity of DNA polymerases-alpha and -gamma during in vitro DNA synthesis.

1985 • 176 citations

A frame-shift mutation in the cystic fibrosis gene

1990 • 107 citations

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

1987 • 93 citations

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

1989 • 93 citations

A Chinese^Gγ⁺(^Aγδβ)⁰thalassemia deletion: comparison to other deletions in the human β-globin gene cluster and sequence analysis of the breakpoints

1985 • 89 citations

Diagnosis of genetic disease using recombinant DNA

1986 • 89 citations

Molecular basis of spontaneous mutation at the aprt locus of hamster cells

1989 • 83 citations

α ₂ -Antiplasmin Enschede: Alanine Insertion and Abolition of Plasmin Inhibitory Activity

1987 • 82 citations

Fidelity of DNA polymerase I and the DNA polymerase I-DNA primase complex from Saccharomyces cerevisiae.

1989 • 77 citations

A Frameshift Mutation Results in a Truncated Nonfunctional Carboxyl-terminal Proα1(I) Propeptide of Type I Collagen in Osteogenesis Imperfecta

1989 • 72 citations

Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG).

1990 • 68 citations

Haemophilia B: database of point mutations and short additions and deletions

1990 • 68 citations

The functional significance of DNA sequence structure in a site-specific genetic recombination reaction.

1988 • 54 citations

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

1990 • 47 citations

A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA

1988 • 45 citations

Identification of Alu transposition in human lung carcinoma cells

1988 • 42 citations

Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families

1989 • 39 citations

Spectrum of spontaneous mutations in a cDNA of the human hprt gene integrated in chromosomal DNA

1989 • 36 citations

Diagnosis of genetic disease using recombinant DNA. Third edition

1991 • 30 citations

A novel ?� arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA

1989 • 29 citations

A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype [letter]

1990 • 24 citations

Hb Catonsville (glutamic acid inserted between Pro-37(C2)α and Thr-38(C3)α)

1989 • 23 citations

Hemophilia B in a male with a four-base insertion that arose in the germline of his mother

1989 • 13 citations

Altered calcitonin gene in a young patient with osteoporosis.

1989 • 11 citations

Hypotheses for testing deviations from random integration: Evidence for nonrandom retroviral integration

1988 • 3 citations