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

Genetic heterogeneity in osteogenesis imperfecta.

1979 • 2,147 citations

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1983 • 627 citations

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

1973 • 257 citations

Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.

1975 • 189 citations

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

1983 • 180 citations

Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.

1981 • 170 citations

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

1980 • 160 citations

Structure of the pro α2(I) collagen gene

1981 • 128 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

Human type I procollagen genes are located on different chromosomes.

1982 • 119 citations

Marfan syndrome: abnormal alpha 2 chain in type I collagen.

1981 • 111 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

A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.

1980 • 73 citations

Isolation and characterization of a 15-kilobase genomic sequence coding for part of the Pro alpha 2 chain of sheep type I collagen.

1980 • 54 citations

Copy number of a human type I alpha 2 collagen gene.

1982 • 51 citations

Isolation and characterization of genomic DNA coding for α2 Type I collagen

1980 • 50 citations

Osteogenesis Imperfecta: Promising Beginnings and Continuing Challenges

1981 • 20 citations