S. Mooney

发表

A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation

P. Byers, M. T. Johnson, N. Robin, 2002, Journal of medical genetics.

Defective C-propeptides of the Proα2(I) Chain of Type I Procollagen Impede Molecular Assembly and Result in Osteogenesis Imperfecta*

P. Byers, S. Leikin, U. Schwarze, 2008, Journal of Biological Chemistry.