Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
Data up to Jan 2025
Total Citations Per Year
Abstract
References (19)
DNA sequencing with chain-terminating inhibitors
1977 • 69,181 citations
Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ
1977 • 4,696 citations
A system for shotgun DNA sequencing
1981 • 2,710 citations
Genetic heterogeneity in osteogenesis imperfecta.
1979 • 2,147 citations
Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.
1985 • 217 citations
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity
1986 • 216 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
Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II
1985 • 192 citations
Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta
1984 • 176 citations
The Role of Cis-Trans Isomerization of Peptide Bonds in the Coil Triple Helix Conversion of Collagen
1978 • 134 citations
Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.
1985 • 125 citations
Collagen genes and inherited connective tissue disease
1985 • 120 citations
Collagen heterogeneity within different growth regions of long bones of rachitic and nonrachitic chicks
1972 • 118 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
DNA and chromatin structure of the human alpha 1 (I) collagen gene.
1984 • 90 citations
The Brittle Bone Syndrome: Osteogenesis Imperfecta
1983 • 47 citations
An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta.
1984 • 36 citations
Genetic and Metabolic Disease in Pediatrics
1985 • 23 citations
Cited By (0)
No citing papers found in database