Article
Functional characterization of novel mutations inGNPAT andAGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3
Fecha
2012Registro en:
ITZKOVITZ, Brandon et al. Functional characterization of novel mutations inGNPAT andAGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. Human Mutation, New York, v. 33, n. 1, p. 189-197, 2012.
1059-7794
10.1002/humu.21623
Autor
Itzkovitz, Brandon
Jiralerspong, Sarn
Nimmo, Graeme
Loscalzo, Melissa
Horovitz, Dafne Dain Gandelman
Snowden, Ann
Moser, Ann
Steinberg, Steve
Braverman, Nancy