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Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Tummala, Hemanth; Collopy, Laura C; Walne, Amanda J; Ellison, Alicia; Cardoso, Shirleny; Aksu, Tekin; Yarali, Nese; Aslan, Deniz; Fikret Akata, Rüstü; Teo, Juliana; Songyang, Zhou; Pontikos, Nikolas; Fitzgibbon, Jude; Tomita, Kazunori; Vulliamy, Tom; Dokal, Inderjeet.
Afiliación
  • Tummala H; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
  • Collopy LC; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
  • Walne AJ; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
  • Ellison A; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
  • Cardoso S; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
  • Aksu T; Department of Hematology, University of Health Sciences, Ankara Child Health and Diseases, Oncology Training and Research Hospital, Ankara, Turkey.
  • Yarali N; Department of Hematology, University of Health Sciences, Ankara Child Health and Diseases, Oncology Training and Research Hospital, Ankara, Turkey.
  • Aslan D; Section of Hematology, Department of Pediatrics, and.
  • Fikret Akata R; Department of Ophthalmology, Faculty of Medicine, Gazi University, Ankara, Turkey.
  • Teo J; The Sydney Children's Hospitals Network, Westmead, NSW, Australia.
  • Songyang Z; BCM-Smith Medical Research Building, Baylor College of Medicine, Houston, TX.
  • Pontikos N; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Fitzgibbon J; Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom; and.
  • Tomita K; Chromosome Maintenance Group, UCL Cancer Institute, University College London, London, United Kingdom.
  • Vulliamy T; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
  • Dokal I; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
Blood ; 132(12): 1349-1353, 2018 09 20.
Article en En | MEDLINE | ID: mdl-30064976
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mutación Puntual / Disqueratosis Congénita / Proteínas de Unión a Telómeros / Dipeptidil-Peptidasas y Tripeptidil-Peptidasas / Serina Proteasas / Complejo Shelterina / Aminopeptidasas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Blood Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mutación Puntual / Disqueratosis Congénita / Proteínas de Unión a Telómeros / Dipeptidil-Peptidasas y Tripeptidil-Peptidasas / Serina Proteasas / Complejo Shelterina / Aminopeptidasas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Blood Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido