Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Supercoil Sequencing: A Fast and Simple Method for Sequencing Plasmid DNA

1985 • 2,505 citations

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination.

1983 • 2,456 citations

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

1983 • 1,093 citations

A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells.

1983 • 933 citations

Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

1965 • 800 citations

Enhancement of the Infectivity of Simian Virus 40 Deoxyribonucleic Acid With Diethylaminoethyl-Dextran<xref ref-type="fn" rid="FN2">2</xref>

1968 • 781 citations

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1984 • 586 citations

A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease

1987 • 343 citations

Gaucher Disease: A Century of Delineation and Research

1983 • 221 citations

Biosynthesis of the lysosomal enzyme glucocerebrosidase.

1985 • 139 citations

Allele-Specific Hybridization Using Oligonucleotide Probes of Very High Specific Activity: Discrimination of the Human β^A- and β^S-Globin Genes

1984 • 129 citations

Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.

1982 • 121 citations

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

1987 • 94 citations

Determination of Gaucher's disease phenotypes with monoclonal antibody

1983 • 58 citations

Cross-reacting material in Gaucher disease fibroblasts.

1984 • 47 citations

Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene.

1985 • 46 citations

Evaluation of "at risk" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes.

1986 • 41 citations

Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single ?Gaucher gene?

1983 • 26 citations

Biochemical Studies in a Patient with Subacute Neuropathic Gaucher Disease without Visceral Glucosylceramide Storage

1983 • 20 citations