The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14.

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

Codon usage and tRNA content in unicellular and multicellular organisms.

1985 • 1,724 citations

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

1978 • 804 citations

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

1984 • 586 citations

The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences

1982 • 524 citations

THE MUTATION AND POLYMORPHISM OF THE HUMAN β-GLOBIN GENE AND ITS SURROUNDING DNA

1984 • 404 citations

[49] DNA analysis in the diagnosis of hemoglobin disorders

1981 • 338 citations

THE MOLECULAR GENETICS OF HUMAN HEMOGLOBINS

1980 • 306 citations

High-Resolution Chromosome Sorting and DNA Spot-Blot Analysis Assign McArdle's Syndrome to Chromosome 11

1984 • 240 citations

THE RELATIONSHIP OF EPINEPHRINE AND GLUCAGON TO LIVER PHOSPHORYLASE

1956 • 228 citations

Gene expression: DNA methylation — how important in gene control?

1984 • 178 citations

Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage.

1986 • 116 citations

Complete cDNA sequence for rabbit muscle glycogen phosphorylase

1986 • 73 citations

Prenatal diagnosis by chorionic villus sampling: Lessons of the first 600 cases

1985 • 71 citations

Molecular Properties and Transformations of Glycogen Phosphorylase in Animal Tissues

1962 • 66 citations

Quantitation of muscle glycogen phosphorylase mRNA and enzyme amounts in adult rat tissues

1986 • 65 citations

Evolutionary implications of the human aldolase-A, -B, -C, and -pseudogene chromosome locations.

1987 • 50 citations

Recombination within and between the human insulin and beta-globin gene loci.

1983 • 48 citations

Spot‐blot analysis of sorted chromosomes assigns a fructose intolerance disease locus to chromosome 9

1985 • 45 citations

A strategy for using multiple linked markers for genetic counseling.

1985 • 39 citations

Human liver glycogen phosphorylase. Kinetic properties and assay in biopsy specimens

1976 • 39 citations

Myophosphorylase deficiency

1976 • 36 citations

Molecular weight estimation of rat uterine phosphorylase

1965 • 31 citations

[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses].

1959 • 30 citations

Prenatal diagnosis and carrier detection of classic phenylketonuria by gene analysis.

1984 • 18 citations

Design and application of a versatile triple‐laser cell and chromosome sorter

1987 • 17 citations

Molecular Studies on Glycogen Storage Diseases

1974 • 13 citations

A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII.

1982 • 12 citations

Liver phosphorylase deficiency in glycogenosis type VI: documentation by biochemical analysis of hepatic biopsy specimens.

1974 • 11 citations

McArdle's disease: A study on the molecular basis of two different etiologies of myophosphorylase deficiency

1979 • 11 citations

Molecular Heterogeneity of MArdle's Disease

1986 • 2 citations