Rowan Digital Works

FIVE FAMILIES WITH ARGININE519-CYSTEINE MUTATION IN COL2A1 : EVIDENCE FOR THREE DISTINCT FOUNDERS, Jane F. Bleasel, Daniel Holderbaum, Valeria Brancolini, Roland W. Moskowitz, Eileen L. Considine, Darwin J. Prockop, Marcella Devoto, Charlene J. Williams
Charlene Williams

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis, Charlene J. Williams, Matthew Rock, Eileen Considine, Seamus McCarron, Peter Gow, Roger Ladda, David McLain, Virginia M. Michels, William Murphy, Darwin J. Prockop, Arupa Ganguly
Charlene Williams

Primers and methods for detecting mutations in the procollagen II gene (COL2A1) that indicate a genetic predisposition for a COL2A1-associated disease, Darwin J. Prockop, Leena Ala-Kokko, Charlene J. Williams, Pertti Ritvaniemi, Clinton Baldwin, Ian Hopkinson, Nilofer Nina Ahmad
Charlene Williams

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75→Cys mutation in the procollagen type II gene (COL2A1), Charlene J. Williams, Eileen L. Considine, Robert G. Knowlton, Antonio Reginato, Guillermo Neumann, David Harrison, Paul Buxton, Sergio Jimenez, Darwin J. Prockop
Charlene Williams

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA, Charlene J. Williams, David A. Harrison, Ian Hopkinson, Clinton T. Baldwin, N. Nina Ahmad, Leena Ala‐Kokko, Richard M. Korn, Paul G. Buxton, Jeffrey Dimascio, Eileen L. Considine, Darwin J. Prockop
Charlene Williams

Mutations in human procollagen genes. Consequences of the mutations in man and in transgenic mice., Darwin J. Prockop, Anne Olsen, Sirpa Kontusaari, James Hyland, Leena Ala-Kokko, Nagaswami S. Vasan, Elisabeth Barton, Susan Buck, Kathleen Harrison, Robert L. Brent
Nagaswami Vasan

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta, Mon-Li Chu, Charlene J. Williams, Gugliemina Pepe, Jeffrey L. Hirsch, Darwin J. Prockop, Francesco Ramirez
Charlene Williams