A Cysteine for Glycine Substitution at Position 175 in an α1 (I) Chain of Type I Collagen Produces A Clinically Heterogeneous Form of Osteogenesis Imperfecta

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Molecular Cloning. A Laboratory Manual

1983 • 27,328 citations

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

1988 • 17,059 citations

Heritable Disorders of Connective Tissue

1960 • 1,560 citations

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

1987 • 811 citations

International nosology of heritable disorders of connective tissue, Berlin, 1986

1988 • 704 citations

Expression and localization of the two small proteoglycans biglycan and decorin in developing human skeletal and non-skeletal tissues.

1990 • 657 citations

Mutations in collagen genes: causes of rare and some common diseases in humans

1991 • 479 citations

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

1990 • 210 citations

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

1984 • 195 citations

Interaction of vitronectin with collagen.

1986 • 146 citations

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

1986 • 122 citations

Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human proα 1(I) collagen gene (COL1A1)

1988 • 92 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

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.

1989 • 79 citations

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

1987 • 69 citations

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.

1989 • 62 citations

The collagen‐binding site of type‐II units of bovine seminal fluid protein PDC‐109 and fibronectin

1990 • 58 citations

The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains.

1986 • 51 citations

A procedure for selective full length cDNA cloning of specific RNA species

1987 • 50 citations

A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain

1991 • 42 citations

Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.

1988 • 39 citations

Decreased Thermal Denaturation Temperature of Osteogenesis Imperfecta Mutant Collagen is Independent of Post-translational Overmodifications of Lysine and Hydroxylysine

1989 • 26 citations