Rowan Digital Works

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH, C. J. Williams, Y. Zhang, A. Timms, G. Bonavita, F. Caeiro, J. Broxholme, J. Cuthbertson, Y. Jones, R. Marchegiani, A. Reginato, R. Graham Russell, B. P. Wordsworth, A. J. Carr, Matthew A. Brown
Charlene Williams

A−2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original stickler syndrome kindred, C. J. Williams, A. Ganguly, E. Considine, S. McCarron, D. J. Prockop, C. Walsh-Vockley, V. V. Michels
Charlene Williams

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1‐247 to serine in a family with late‐onset spondyloepiphyseal dysplasia, P. Ritvaniemi, B. P. Sokolov, C. J. Williams, E. Considine, L. Yurgenev, E. M. Meerson, L. Ala-Kokko, D. J. Prockop
Charlene Williams