Mugen Terzioglu

Summary

Affiliation: Hacettepe University
Country: Turkey

Publications

  1. ncbi request reprint Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B
    Serap Emre
    Department of Medical Biology, Faculty of Medicine, University of Hacettepe, Ankara, Turkey
    Hum Mutat 19:184-5. 2002
  2. ncbi request reprint Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene
    Mugen Terzioglu
    Department of Medical Biology, Faculty of Medicine, University of Hacettepe, Ankara, Turkey
    Hum Mutat 20:477-8. 2002
  3. ncbi request reprint The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase
    Jeng Jer Shieh
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 277:5047-53. 2002

Collaborators

Detail Information

Publications3

  1. ncbi request reprint Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B
    Serap Emre
    Department of Medical Biology, Faculty of Medicine, University of Hacettepe, Ankara, Turkey
    Hum Mutat 19:184-5. 2002
    ..17703 A>G (novel), and T437I (novel). The clinical data of all patients are reported in detail. A high degree of genetic heterogeneity was observed in the Turkish MPS IIIA and MPS IIIB patients...
  2. ncbi request reprint Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene
    Mugen Terzioglu
    Department of Medical Biology, Faculty of Medicine, University of Hacettepe, Ankara, Turkey
    Hum Mutat 20:477-8. 2002
    ..Together they account for 95% of the disease alleles of the patients investigated. Beside mutations, one previously identified E477 polymorphism and one novel W520 polymorphism were found among Turkish MPS IVA patients...
  3. ncbi request reprint The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase
    Jeng Jer Shieh
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 277:5047-53. 2002
    ....