V Seyrantepe

Summary

Country: Turkey

Publications

  1. ncbi request reprint Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online
    V Seyrantepe
    Department of Medical Biology, Hacettepe University, Faculty of Medicine, Ihsan Dogramaci Children s Hospital, Ankara, Turkey
    Hum Mutat 13:339. 1999
  2. ncbi request reprint Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population
    C F Dogulu
    Institute of Neurological Sciences and Psychiatry, Department of Neurology, Hacettepe University, Ankara, Turkey
    Eye (Lond) 15:183-8. 2001
  3. ncbi request reprint Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature
    E Simsek
    Department of Paediatric Endocrinology, Abant Izzet Baysal University School of Medicine, Duzce, Turkey
    Acta Paediatr 92:55-61. 2003

Collaborators

  • E Simsek
  • C F Dogulu
  • S Tekgul
  • G Aktan
  • T Simsek
  • S Hosal
  • T Kansu
  • M Ozguc
  • H Topaloglu
  • D R Johns

Detail Information

Publications3

  1. ncbi request reprint Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online
    V Seyrantepe
    Department of Medical Biology, Hacettepe University, Faculty of Medicine, Ihsan Dogramaci Children s Hospital, Ankara, Turkey
    Hum Mutat 13:339. 1999
    ....
  2. ncbi request reprint Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population
    C F Dogulu
    Institute of Neurological Sciences and Psychiatry, Department of Neurology, Hacettepe University, Ankara, Turkey
    Eye (Lond) 15:183-8. 2001
    ..LHON-associated mtDNA mutations have been found in LHON patients from around the world, but the Turkish LHON population has not been studied...
  3. ncbi request reprint Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature
    E Simsek
    Department of Paediatric Endocrinology, Abant Izzet Baysal University School of Medicine, Duzce, Turkey
    Acta Paediatr 92:55-61. 2003
    ..To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature...