NANCY ELISE BRAVERMAN

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. ncbi request reprint Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
    Nancy Braverman
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Hum Mutat 20:284-97. 2002

Research Grants

Collaborators

Detail Information

Publications1

  1. ncbi request reprint Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
    Nancy 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...

Research Grants1

  1. Screening Small Molecules for Rescue of Peroxisome Assembly Defects
    Steven 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. ..