Osteogenesis Imperfecta Type IV

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

Randall K. Saiki, David H. Gelfand, Susanne Stoffel et al. · Science · 1988 · 17.2K citations

Life Sciences, Biotechnology, Molecular Biology +12

A simple and very efficient method for generating cDNA libraries

Ueli Gubler, Beth J. Hoffman · Gene · 1983 · 4.6K citations

Life Sciences, Molecular Biology, Molecular Genetics +10

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

Wouter de Wet, Michael P. Bernard, Virginia Benson-Chanda et al. · Journal of Biological Chemistry · 1987 · 157 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.

Petros Tsipouras, Jeanne C. Myers, Francesco Ramirez et al. · Journal of Clinical Investigation · 1983 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

Richard Wenstrup, Daniel H. Cohn, Tzafra Cohen et al. · Journal of Biological Chemistry · 1988 · 75 citations · Full text

Medicine, Genetics, Molecular Genetics +13