A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Molecular Cloning. A Laboratory Manual

1983 • 27,328 citations

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

1985 • 9,128 citations

A simple and very efficient method for generating cDNA libraries

1983 • 4,606 citations

Infrarenal Abdominal Aortic Aneurysm

1981 • 423 citations

Acetabular dysplasia and familial joint laxity: two etiological factors in congenital dislocation of the hip. A review of 589 patients and their families.

1970 • 338 citations

Analysis of DNA extracted from formalin-fixed, paraffin-embedded tissues by enzymatic amplification and hybridization with sequence-specific oligonucleotides

1987 • 260 citations

Are familial abdominal aortic aneurysms different?

1989 • 157 citations

Structure of cDNA clones coding for the entire preproα1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

1989 • 132 citations

Screening for abdominal aortic aneurysms

1985 • 132 citations

Are familial abdominal aortic aneurysms different?

1989 • 131 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

Ultrasonographic screening of the abdominal aorta among siblings of patients with abdominal aortic aneurysms

1989 • 128 citations

A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.

1988 • 123 citations

Formation of the Triple Helix of Type I Procollagen in cellulo. A Kinetic Model Based on cis-trans Isomerization of Peptide Bonds

1981 • 105 citations

Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases.

1985 • 102 citations

Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts.

1981 • 101 citations

Type I procollagen: The gene‐protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue

1989 • 96 citations

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

1990 • 94 citations

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV

1989 • 92 citations

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.

1990 • 88 citations

The Ehlers-Danlos syndrome

1969 • 81 citations

A Single Base Mutation That Substitutes Serine for Glycine 790 of the α 1 (III) Chain of Type III Procollagen Exposes an Arginine and Causes Ehlers-Danlos Syndrome IV

1989 • 79 citations

Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV

1989 • 68 citations

The A and B fragments of normal type I procollagen have a similar thermal stability to proteinase digestion but are selectively destabilized by structural mutations

1987 • 21 citations

Effects of Mutations that Change Primary Structure of Collagen on the Self-Assembly of the Protein into Fibrils

1989 • 10 citations

Ehlers–Danlos Syndrome

2013 • 9 citations

[Increasing numbers of patients dying because of abdominal aortic aneurysm. Increased diagnostic sharpness is needed].

1986 • 8 citations