A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

Molecular Cloning. A Laboratory Manual

1983 • 27,328 citations

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

1988 • 17,059 citations

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

1988 • 1,582 citations

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

1988 • 636 citations

Mendelian Inheritance in Man

1987 • 599 citations

The estimation of two collagens from human dermis by interrupted gel electrophoresis

1976 • 564 citations

PCR Technology: Principles and Applications for DNA Amplification

1990 • 512 citations

Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

1975 • 421 citations

Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

1986 • 389 citations

A single-base change at a splice site in a β0-thalassemic gene causes abnormal RNA splicing

1982 • 372 citations

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

1981 • 334 citations

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen gene

1988 • 235 citations

Human proα1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons

1984 • 208 citations

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

1988 • 192 citations

Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

1984 • 176 citations

Organization of the human pro-alpha 2(I) collagen gene.

1987 • 156 citations

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1988 • 146 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

GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria

1987 • 129 citations

Collagen defects in lethal perinatal osteogenesis imperfecta

1986 • 126 citations

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.

1986 • 120 citations

Spontaneous splicing mutations at the dihydrofolate reductase locus in Chinese hamster ovary cells.

1986 • 109 citations

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

1981 • 101 citations

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII

1989 • 99 citations

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

1989 • 92 citations

Thermal Stability and Folding of Type IV Procollagen and Effect of Peptidyl-Prolyl cis-trans-Isomerase on the Folding of the Triple Helix

1989 • 90 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

Biological detection of specific mRNA molecules by microinjection.

1979 • 79 citations

Separation of type III collagen from type I collagen and pepsin by differential denaturation and renaturation

1978 • 64 citations

Covalent structure of collagen: amino acid sequence of .alpha.1(III)-CB9 from type III collagen of human liver

1981 • 60 citations

Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide-gel electrophoresis

1981 • 45 citations

Rapid fractionation of collagen chains and peptides by high-performance liquid chromatography

1986 • 44 citations

Quantitation of type I and III collagens using electrophoresis of alpha chains and cyanogen bromide peptides

1984 • 44 citations

Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA.

1988 • 44 citations

Covalent structure of collagen: amino acid sequence of .alpha.1(III)-CB5 from type III collagen of human liver

1980 • 30 citations

Comprehensive analysis of collagen metabolism in vitro using [43H][14C]proline dual-labeling and polyacrylamide gel electrophoresis

1988 • 25 citations

Detection and localization of base changes in RNA using a chemical cleavage method

1989 • 25 citations

Nucleotide and amino acid sequences of the entire human α1 (III) collagen

1989 • 22 citations

Cell-layer-associated proteolytic cleavage of the telopeptides of type I collagen in fibroblast culture

1987 • 21 citations

Biochemical Heterogeneity of Type I Collagen Mutations in Osteogenesis Imperfecta^a

1988 • 15 citations

Human pro α 1(III) collagen: cDNA sequence for the 3′ end

1988 • 13 citations