Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

Antzeko izenburuak

• Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
  nork: Vulliamy, Tom, et al.
  Argitaratua: (2008)
• Dyskeratosis congenita and the DNA damage response
  nork: Kirwan, Michael, et al.
  Argitaratua: (2011)
• TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
  nork: Walne, Amanda J., et al.
  Argitaratua: (2008)
• Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
  nork: Walne, Amanda J., et al.
  Argitaratua: (2010)
• Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
  nork: Marrone, Anna, et al.
  Argitaratua: (2007)