Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

1961 • 3,881 citations

DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS

1963 • 369 citations

New method for mapping genes in human chromosomes

1975 • 356 citations

Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase

1968 • 251 citations

The rapid induction by phytohemagglutinin of increased α-aminoisobutyric acid uptake by lymphocytes

1971 • 222 citations

Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome

1970 • 209 citations

X-Linked Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency: Heterozygote Has Two Clonal Populations

1968 • 195 citations

Human Glutamine Phosphoribosylpyrophosphate Amidotransferase

1973 • 175 citations

Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

1970 • 139 citations

Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.

1975 • 136 citations

Purine Overproduction in Man Associated with Increased Phosphoribosylpyrophosphate Synthetase Activity

1973 • 118 citations

Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout

1972 • 113 citations

Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity

1973 • 111 citations

Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.

1976 • 104 citations

Human Phosphoribosylpyrophosphate Synthetase: Increased Enzyme Specific Activity in a Family with Gout and Excessive Purine Synthesis

1973 • 86 citations

Human Adenine Phosphoribosyltransferase: Purification, Subunit Structure and Substrate Specificity

1974 • 76 citations

Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes.

1975 • 76 citations

Altered kinetic property of erythrocyte phosphoribosylpsyrophosphate synthetase in excessive purine production.

1972 • 69 citations

Genetic activity of sex chromosomes in somatic cells of mammals

1970 • 52 citations

Hypouricemic, Mentally Retarded Infant with a Defect of 5-Phosphoribosyl-1-pyrophophate Synthetase of Erythrocytes

1974 • 42 citations

Phosphoribosylpyrophosphate Synthetase Is Elevated in Fibroblasts from Patients with the Lesch-Nyhan Syndrome

1976 • 35 citations

Evaluation of the role of 5-phosphoribosyl-α-1-pyrophosphate synthetase in congenital hyperuricemia and gout: A simple isotopic assay and an activity stain for the enzyme

1974 • 15 citations

Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphate synthetase.

1973 • 11 citations

X-Linked Pattern of Inheritance of Gout Due to Mutant Feedback-Resistant Phosphoribosylpyrophosphate Synthetase

1977 • 6 citations

An Improved Method for the Electrophoretic Separation and Histochemical Identification of 5-Phosphoribosyl-1-Pyrophosphate Synthetase Using Microgram Quantities of Crude Cell Extracts

1977 • 2 citations