Use of R-loop mapping for the assessment of human collagen mutations.

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

1980 • 15,302 citations

[31] Electron microscope heteroduplex methods for mapping regions of base sequence homology in nucleic acids

1971 • 1,605 citations

The Biosynthesis of Collagen and Its Disorders

1979 • 1,067 citations

Spliced early mRNAs of simian virus 40

1978 • 817 citations

Heritable Diseases of Collagen

1984 • 572 citations

Osteogenesis Imperfecta

1981 • 378 citations

Structure of a cDNA for the pro.alpha.2 chain of human type I procollagen. Comparison with chick cDNA for pro.alpha.2(I) identifies structurally conserved features of the protein and the gene

1983 • 252 citations

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

1984 • 208 citations

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

1984 • 207 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

Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene.

1985 • 191 citations

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta

1983 • 180 citations

Improved methods for the formation and stabilization of R-loops

1979 • 163 citations

Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts.

1983 • 158 citations

Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

1982 • 137 citations

Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta.

1983 • 121 citations

The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen.

1983 • 113 citations

Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

1985 • 113 citations

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.

1983 • 107 citations

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.

1983 • 94 citations

Isolation and characterization of overlapping genomic clones covering the chicken alpha 2 (type I) collagen gene.

1980 • 83 citations

DNA Electron Microscopy - Part

1981 • 79 citations

The mRNAs for the pro-alpha 1(I) and pro-alpha 2(I) chains of type I procollagen are translated at the same rate in normal human fibroblasts and in fibroblasts from two variants of osteogenesis imperfecta with altered steady state ratios of the two mRNAs.

1983 • 79 citations

Isolation and translation of elastin mRNA from chick aorta

1979 • 76 citations

Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.

1984 • 72 citations

A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-proteinase.

1984 • 68 citations

Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.

1984 • 57 citations

Structural organization of a 17 KB segment of the α2 collagen gene: evaluation by R loop mapping

1980 • 31 citations