Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.

A rapid alkaline extraction procedure for screening recombinant plasmid DNA

1979 • 15,511 citations

Studies on transformation of Escherichia coli with plasmids

1983 • 11,179 citations

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

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

1985 • 2,505 citations

The human glucocerebrosidase gene and pseudogene: Structure and evolution

1989 • 421 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

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

1988 • 188 citations

Secondary, tertiary, and quaternary structure of T-cell-specific immunoglobulin-like polypeptide chains.

1986 • 143 citations

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

1982 • 121 citations

Characterization of mutations in Gaucher patients by cDNA cloning.

1989 • 75 citations

Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting.

1987 • 65 citations

Genetic heterogeneity in Gaucher disease: Physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non‐neuronopathic and neuronopathic patients

1985 • 65 citations

Gaucher Disease Type 1: Cloning and Characterization of a cDNA Encoding Acid β-Glucosidase from an Ashkenazi Jewish Patient

1988 • 64 citations

Structural Analysis of the Human Glucocerebrosidase Genes

1988 • 52 citations

Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.

1985 • 43 citations

Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.

1986 • 32 citations

Genetic heterogeneity in Gaucher disease.

1986 • 13 citations

Gaucher Disease: Enzymatic and Molecular Studies

1988 • 4 citations

Deleted Work

1955 • 0 citations