NANCY ELISE BRAVERMAN
Affiliation: Johns Hopkins University
- Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman
McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Hum Mutat 20:284-97. 2002..We find that residual activity of mutant Pex7p and reduced amounts of normal Pex7p are associated with milder and variant phenotypes...
- Screening Small Molecules for Rescue of Peroxisome Assembly DefectsSteven Steinberg; Fiscal Year: 2007..Identified compounds will be tested in cell lines from patients with other known defects to determine broad applicability. Ultimately these drugs could be developed for patient use. ..