|
|||||
|
|
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 |
|
| Authors: | Itzkovitz Brandon Jiralerspong Sarn Nimmo Graeme Loscalzo Melissa Horovitz Dafne D G Snowden Ann Moser Ann Steinberg Steve Braverman Nancy |
| Affiliation: | Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada. |
| Abstract: | |
| Keywords: | peroxisome disease RCDP plasmalogen AGPS GNPAT |
| 本文献已被 PubMed 等数据库收录！ | |