C Sun

Summary

Affiliation: University of Troms
Country: Norway

Publications

  1. ncbi Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
    C Sun
    Department of Medical Genetics, University Hospital of Tromsø, Tromsø, Norway
    Eur J Hum Genet 9:903-9. 2001
  2. doi Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene
    C Sun
    Department of Clinical Medicine Medical Genetics, Faculty of Health Sciences, University of Tromsø, Tromsø, Norway
    Clin Genet 80:574-80. 2011
  3. ncbi An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y
    C Sun
    Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    Nat Genet 23:429-32. 1999

Detail Information

Publications3

  1. ncbi Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
    C Sun
    Department of Medical Genetics, University Hospital of Tromsø, Tromsø, Norway
    Eur J Hum Genet 9:903-9. 2001
    ..In two probands, three mutations cosegregated with myotonia. No CLCN1 mutations were identified in two families. Our data support the presence of genetic heterogeneity and additional modifying factors in myotonia congenita...
  2. doi Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene
    C Sun
    Department of Clinical Medicine Medical Genetics, Faculty of Health Sciences, University of Tromsø, Tromsø, Norway
    Clin Genet 80:574-80. 2011
    ..Heterozygosity for p.Phe413Cys seems to exaggerate the severity of myotonia and thereby, to some degree, contributing to the pronounced variability in the myotonic phenotype in this family...
  3. ncbi An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y
    C Sun
    Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    Nat Genet 23:429-32. 1999
    ..We also identified a single-gene deletion associated with spermatogenic failure, again involving USP9Y, by re-analysing a published study...