These authors contributed equally to the work.
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3†
Article first published online: 31 OCT 2011
© 2011 Wiley Periodicals, Inc.
Volume 33, Issue 1, pages 189–197, January 2012
How to Cite
Itzkovitz, B., Jiralerspong, S., Nimmo, G., Loscalzo, M., Horovitz, D. D. G., Snowden, A., Moser, A., Steinberg, S. and Braverman, N. (2012), Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. Hum. Mutat., 33: 189–197. doi: 10.1002/humu.21623
Communicated by Iain McIntosh
- Issue published online: 14 DEC 2011
- Article first published online: 31 OCT 2011
- Accepted manuscript online: 11 OCT 2011 01:35PM EST
- Manuscript Accepted: 13 SEP 2011
- Manuscript Received: 12 MAY 2011
- Montreal Children's Hospital-Research Institute (to N.B.)
- RCDP family funds
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