Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

類似資料

• Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
  著者:: Marrone, Anna, 等
  出版事項: (2007)
• Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
  著者:: Vulliamy, Tom, 等
  出版事項: (2008)
• Telomerase dysfunction and dyskeratosis congenita
  著者:: Walne, Amanda J., 等
  出版事項: (2004)
• Dyskeratosis congenita and the DNA damage response
  著者:: Kirwan, Michael, 等
  出版事項: (2011)
• Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
  著者:: Walne, Amanda J., 等
  出版事項: (2013)