Polymorphic DNA haplotypes at the LDL receptor locus.

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

1988 • 17,059 citations

[57] Sequencing end-labeled DNA with base-specific chemical cleavages

1980 • 15,302 citations

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

1985 • 9,128 citations

Genomic sequencing.

1984 • 8,343 citations

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

1980 • 8,270 citations

A Receptor-Mediated Pathway for Cholesterol Homeostasis

1986 • 5,638 citations

A simple, rapid, and sensitive DNA assay procedure

1980 • 5,006 citations

THE INTERACTION OF SELECTION AND LINKAGE. I. GENERAL CONSIDERATIONS; HETEROTIC MODELS

1964 • 1,829 citations

Hyperlipidemia in Coronary Heart Disease II. GENETIC ANALYSIS OF LIPID LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIA

1973 • 1,457 citations

The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA

1984 • 1,386 citations

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

1982 • 937 citations

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

1978 • 804 citations

The Alu Family of Dispersed Repetitive Sequences

1982 • 611 citations

Inferences about Linkage Disequilibrium

1979 • 516 citations

Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains

1985 • 453 citations

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

1984 • 404 citations

The J. D. mutation in familial hypercholesterolemia: Amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

1986 • 372 citations

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

1985 • 301 citations

Deletion in the Gene for the Low-Density-Lipoprotein Receptor in a Majority of French Canadians with Familial Hypercholesterolemia

1987 • 300 citations

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1987 • 293 citations

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.

1987 • 282 citations

Is the most frequent allele the oldest?

1977 • 275 citations

The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor

1983 • 261 citations

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1986 • 249 citations

The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.

1988 • 247 citations

Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia

1982 • 245 citations

An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2

1987 • 178 citations

Apolipoprotein genetic variation and human disease

1988 • 170 citations

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.

1986 • 168 citations

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia.

1986 • 150 citations

Evidence for increased recombination near the human insulin gene: implication for disease association studies.

1986 • 113 citations

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

1987 • 109 citations

A COMMON DNA POLYMORPHISM OF THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE AND ITS USE IN DIAGNOSIS

1985 • 104 citations

Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster.

1984 • 100 citations

A locus on chromosome 11p with multiple restriction site polymorphisms.

1984 • 99 citations

AvaII polymorphism in the human LDL receptor gene

1987 • 76 citations

Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia

1987 • 74 citations

Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.

1988 • 73 citations

DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster

1988 • 69 citations

Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.

1985 • 64 citations

A RFLP associated with the low-density lipoprotein receptor gene (LDLR)

1987 • 61 citations

Multiple origins of the sickle mutation: evidence from beta S globin gene cluster polymorphisms.

1983 • 58 citations

A DNA polymorphism in the human low-density lipoprotein receptor gene.

1986 • 54 citations

A strategy for using multiple linked markers for genetic counseling.

1985 • 39 citations

DNA polymorphic patterns and haplotype arrangements of the apo A-1, apo C-III, apo A-IV gene cluster in different ethnic groups

1987 • 39 citations

Human LDl receptor gene: two Apali RFLPs

1987 • 38 citations

Pst I RFLP close to the LDL receptor gene

1986 • 29 citations