J J Johnston

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
    J J Johnston
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA
    Am J Hum Genet 67:814-21. 2000
  2. ncbi request reprint Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation
    J J Johnston
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    J Inherit Metab Dis 27:157-63. 2004

Detail Information

Publications2

  1. pmc A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
    J J Johnston
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA
    Am J Hum Genet 67:814-21. 2000
    ..We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1...
  2. ncbi request reprint Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation
    J J Johnston
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    J Inherit Metab Dis 27:157-63. 2004
    ....