The use of chemical reagents in the detection of DNA mutations

A new method for sequencing DNA.

1977 • 7,941 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Mouse Small eye results from mutations in a paired-like homeobox-containing gene

1991 • 1,124 citations

p53 mutations in colorectal cancer.

1990 • 1,030 citations

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

1988 • 636 citations

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.

1983 • 536 citations

let-60, a gene that specifies cell fates during C. elegans vulval induction, encodes a ras protein

1990 • 397 citations

Chemical probes of DNA conformation: detection of Z-DNA at nucleotide resolution

1985 • 286 citations

MINIREVIEW: Estrogen Receptor Variants in Clinical Breast Cancer

1991 • 262 citations

Analysis of the β-δ-globin gene loci in normal and hb lepore DNA: Direct determination of gene linkage and intergene distance

1978 • 260 citations

Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis

1985 • 252 citations

Organic Chemistry of Nucleic Acids

1972 • 250 citations

Point mutations in the dystrophin gene.

1992 • 189 citations

Direct detection of point mutations by mismatch analysis: application to haemophilia B

1989 • 168 citations

Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.

1991 • 147 citations

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.

1989 • 129 citations

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

1991 • 103 citations

Detection of single base changes in nucleic acids

1989 • 99 citations

Frequent incidence of somatic mutations in translocated BCL2 oncogenes of non-Hodgkin's lymphomas

1992 • 98 citations

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

1991 • 95 citations

Mutations in p53 do not account for heritable breast cancer: a study in five affected families

1991 • 77 citations

Characterization of Point Mutations in the Collagen COL1A1 and COL1A2 Genes Causing Lethal Perinatal Osteogenesis Imperfecta

1989 • 72 citations

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

1989 • 72 citations

Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia

1991 • 72 citations

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.

1991 • 70 citations

Improved molecular diagnostics for ornithine transcarbamylase deficiency.

1991 • 66 citations

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

1992 • 65 citations

Investigation of nucleic acid secondary structure by means of chemical modification with a carbodiimide reagent. II. Reaction between N-cyclohexyl-N'-β-(4-methylmorpholinium)ethylcarbodiimide and transfer ribonucleic acid

1969 • 65 citations

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

1990 • 62 citations

Chemical reactivity of matched cytosine and thymine bases near mismatched and unmatched bases in a heteroduplex between DNA strands with multiple differences

1989 • 60 citations

Detection of single base-pair mismatches in DNA by chemical modification followed by electrophoresis in 15% polyacrylamide gel.

1986 • 60 citations

Detection of single-base mutations by reaction of DNA heteroduplexes with a water-soluble carbodiimide followed by primer extension: application to products from the polymerase chain reaction

1990 • 54 citations

Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.

1990 • 52 citations

Investigation of nucleic acid secondary structure by means of chemical modification with a carbodiimide reagent. I. Reaction between N-cyclohexyl-N'-β-(4-methylmorpholinium)ethylcarbodiimide and model nucleotides

1969 • 48 citations

Molecular and genetic characterization of an ornithine decarboxylase-deficient Chinese hamster cell line.

1990 • 48 citations

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

1990 • 47 citations

Activities and incision patterns of ABC excinuclease on modified DNA containing single-base mismatches and extrahelical bases.

1986 • 45 citations

Characterization of the mutations in three patients with pyruvate dehydrogenase E1α deficiency

1990 • 44 citations

Chemical modification of simian virus 40 DNA by reaction with a water-soluble carbodiimide

1976 • 43 citations

Complete mutation detection using unlabeled chemical cleavage

1992 • 43 citations

Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: evidence for little recombination in the 3' end of the human gene.

1992 • 42 citations

A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain

1991 • 42 citations

Detection of novel genetic markers by mismatch analysis

1989 • 39 citations

Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation Detection

1992 • 37 citations

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

1991 • 36 citations

Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation

1991 • 34 citations

Simultaneous screening for β-thalassemia mutations by chemical cleavage of mismatch

1991 • 33 citations

Chemical modification studies and the secondary structure of HeLa cell 5.8S rRNA

1980 • 31 citations

Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

1991 • 28 citations

Detection and localization of base changes in RNA using a chemical cleavage method

1989 • 25 citations

Detection and location of single-base mutations in large DNA fragments by immunomicroscopy

1989 • 24 citations

A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease.

1991 • 18 citations

[19]Chemical cleavage of mismatch to detect mutations

1993 • 16 citations

Immunoassays for carbodiimide modified DNA-detection of unpairing transitions in supercoiled ColE1 DNA

1989 • 14 citations

A Chemical Mismatch Cleavage Method Useful for the Detection of Point Mutations in the p53 Gene in Lung Cancer

1990 • 13 citations

A polymorphism in a region with enhancer activity in the second intron of the human apolipoprotein B gene.

1991 • 13 citations

Anomalous Cysteine in Type I Collagen. Localisation by Chemical Cleavage of the Protein Using 2-Nitro-5-Thiocyanobenzoic Acid and by Mismatch Analysis of cDNA Heteroduplexes

1990 • 11 citations

Polymorphisms in the human X-linked pyruvate dehydrogenase E1? gene

1991 • 11 citations

Mutant profiles of selectable genetic elements.

1991 • 8 citations

³⁵S-labelled probes improve detection of mismatched base pairs by chemical cleavage

1991 • 8 citations

A Msel polymorphism in exon 48 of the dystrophin gene

1991 • 8 citations

A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.

1991 • 8 citations

Rapid chemical mapping of dengue virus variability using RNA isolated directly from cells

1989 • 8 citations

Use of the chemical cleavage of mismatch method for prenatal deficiency diagnosis of alpha‐1‐antitrypsin

1992 • 6 citations