Both authors contributed equally to this work.
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution†
Article first published online: 31 OCT 2011
© 2011 Wiley Periodicals, Inc.
Volume 33, Issue 1, pages 144–157, January 2012
How to Cite
Jackson, G. C., Mittaz-Crettol, L., Taylor, J. A., Mortier, G. R., Spranger, J., Zabel, B., Le Merrer, M., Cormier-Daire, V., Hall, C. M., Offiah, A., Wright, M. J., Savarirayan, R., Nishimura, G., Ramsden, S. C., Elles, R., Bonafe, L., Superti-Furga, A., Unger, S., Zankl, A. and Briggs, M. D. (2012), Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum. Mutat., 33: 144–157. doi: 10.1002/humu.21611
Communicated by David Rimoin
- Issue published online: 14 DEC 2011
- Article first published online: 31 OCT 2011
- Accepted manuscript online: 15 SEP 2011 01:58PM EST
- Manuscript Accepted: 29 AUG 2011
- Manuscript Received: 7 JUL 2011
- Wellcome Trust (071161/Z/03/Z, 084353/Z/07/Z to M.D.B.)
- The European Commission FP5 (QLG1-CT-2001-02188) and FP6 (LSHM-CT-2007-037471)
- The Swiss National Science Foundation (FN 310030-132940/BONAFE Luisa)
- The Leenaards Foundation in Lausanne (to A.S.F.)
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