A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

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

1985 • 9,128 citations

Genetic heterogeneity in osteogenesis imperfecta.

1979 • 2,147 citations

Stability of proteins. Proteins which do not present a single cooperative system.

1982 • 1,041 citations

Heritable Diseases of Collagen

1984 • 572 citations

Fidelity of DNA polymerases in DNA amplification.

1989 • 487 citations

Proteolytic enzymes as probes for the triple-helical conformation of procollagen

1981 • 334 citations

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

1988 • 228 citations

Brittle bones - fragile molecules: disorders of collagen gene structure and expression

1990 • 210 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

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

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

A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.

1987 • 91 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

Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

1988 • 75 citations

Characterization of Point Mutations in the Collagen COL1A1 and COL1A2 Genes Causing Lethal Perinatal Osteogenesis Imperfecta

1989 • 72 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

Peptide Mapping of Collagen Chains Using CNBr Cleavage of Proteins Within Polyacrylamide Gels

1981 • 63 citations

Detection of single-base mutations by reaction of DNA heteroduplexes with a water-soluble carbodiimide followed by primer extension: application to products from the polymerase chain reaction

1990 • 54 citations

Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks.

1990 • 53 citations

Substitution of Serine for α1(I)-Glycine 844 in a Severe Variant of Osteogenesis Imperfecta Minimally Destabilizes the Triple Helix of Type I Procollagen

1989 • 43 citations

Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity^a

1988 • 36 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

Mutations in Human Procollagen Genes.

1990 • 17 citations