Genomes and Genes

Species

S S Cathey

Summary

Affiliation: Greenwood Genetic Center
Country: USA

Publications

  1. doi request reprint Molecular order in mucolipidosis II and III nomenclature
    Sara S Cathey
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 146:512-3. 2008
  2. pmc Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
    S S Cathey
    Greenwood Genetic Center, Charleston Office, Montague Oaks Office Park, N Charleston, SC 29418, USA
    J Med Genet 47:38-48. 2010

Detail Information

Publications2

  1. doi request reprint Molecular order in mucolipidosis II and III nomenclature
    Sara S Cathey
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 146:512-3. 2008
  2. pmc Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
    S S Cathey
    Greenwood Genetic Center, Charleston Office, Montague Oaks Office Park, N Charleston, SC 29418, USA
    J Med Genet 47:38-48. 2010
    ..The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase...