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

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...