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

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies

1966 • 4,504 citations

Frameshift Mutations and the Genetic Code

1966 • 1,400 citations

Genetic studies of the lac repressor

1978 • 517 citations

A METHOD FOR THE DETECTION OF ATYPICAL FORMS OF HUMAN SERUM CHOLINESTERASE. DETERMINATION OF DIBUCAINE NUMBERS

1957 • 476 citations

Differential Inhibition of Human Serum Cholinesterase with Fluoride: Recognition of Two New Phenotypes

1961 • 364 citations

ON DISTRIBUTION AND INHERITANCE OF ATYPICAL FORMS OF HUMAN SERUM CHOLINESTERASE, AS INDICATED BY DIBUCAINE NUMBERS

1957 • 296 citations

Molecular basis and prenatal diagnosis of beta-thalassemia

1988 • 248 citations

A COMPARISON OF OPTICAL AND MANOMETRIC METHODS FOR THE ASSAY OF HUMAN SERUM CHOLINESTERASE

1955 • 243 citations

A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum.

1988 • 209 citations

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

1984 • 207 citations

THE FAMILIAL INCIDENCE OF LOW PSEUDOCHOLINESTERASE LEVEL

1956 • 206 citations

A ‘Silent’ Pseudocholinesterase Gene

1962 • 191 citations

Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase.

1989 • 191 citations

Frameshift mutagenesis by eucaryotic DNA polymerases in vitro.

1986 • 177 citations

Structure of the gene for human butyrylcholinesterase. Evidence for a single copy

1990 • 161 citations

Comparison of atypical and usual human serum cholinesterase. Purification, number of active sites, substrate affinity, and turnover number.

1978 • 139 citations

Brain cDNA clone for human cholinesterase.

1987 • 104 citations

Complete Pseudocholinesterase Deficiency: Genetic and Immunologic Characterization*

1965 • 98 citations

Molecular Basis of a Mutational Hot Spot in the Lysozyme Gene of Bacteriophage T4

1972 • 87 citations

alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon.

1987 • 86 citations

De novo amplification within a "silent" human cholinesterase gene in a family subjected to prolonged exposure to organophosphorous insecticides.

1989 • 84 citations

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

1989 • 72 citations

Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.

1989 • 66 citations

Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotes

1970 • 62 citations

Hereditary Deficiency of Pseudocholinesterase in Eskimos

1967 • 56 citations

THE PSEUDOCHOLINESTERASE VARIANTS. ESTERASE LEVELS AND DIBUCAINE NUMBERS IN FAMILIES SELECTED THROUGH SUXAMETHONIUM SENSITIVE INDIVIDUALS

1960 • 56 citations

THE "SILENT" GENE FOR SERUM CHOLINESTERASE.

1964 • 47 citations

Molecular basis for congenital deficiency of alpha 2-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence.

1989 • 45 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

On the problem of a “silent gene” in pseudocholinesterase polymorphism

1965 • 37 citations

EVIDENCE FOR DIFFERENT "SILENT GENES" IN THE HUMAN SERUM PSEUDOCHOLINESTERASE POLYMORPHISM

1968 • 34 citations

SUXAMETHONIUM IN THE ABSENCE OF PSEUDOCHOLINESTERASE

1962 • 22 citations

High incidence of the silent allele at cholinesterase locus I in Vysyas of Andhra Pradesh (S. India)

1979 • 20 citations

GENETICS OF ESTERASES IN MAN

1968 • 19 citations

A third type of serum cholinesterase deficiency in Eskimos.

1976 • 16 citations

Properties of the trace enzyme in human serum cholinesterase deficiency

1970 • 14 citations

A note on suxamethonium sensitivity and serum cholinesterase variants

1976 • 12 citations

Further variation of the “silent” cholinesterase gene

1973 • 10 citations

Serum esterases of Icelanders 1. A “silent” pseudocholinesterase gene in an icelandic family

1975 • 9 citations

Further Evidence on the Heterogeneity of ‘Silent’ Serum Cholinesterase Variants

1973 • 6 citations

Evidence for mutation being the source of the abnormal gene for plasma cholinesterase

1974 • 5 citations