Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes


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Tummala H., Collopy L. C., Walne A. J., Ellison A., Cardoso S., Aksu T., ...More

Blood, vol.132, no.12, pp.1349-1353, 2018 (SCI-Expanded, Scopus) identifier identifier

  • Publication Type: Article / Letter
  • Volume: 132 Issue: 12
  • Publication Date: 2018
  • Doi Number: 10.1182/blood-2018-03-837799
  • Journal Name: Blood
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1349-1353
  • Open Archive Collection: AVESIS Open Access Collection
  • Ankara Yıldırım Beyazıt University Affiliated: No