A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII

Podobne knjige/članki

• Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin
  od: Zhang, Bin, et al.
  Izdano: (2011)
• JAK3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site
  od: Platt, Craig D., et al.
  Izdano: (2016)
• Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1
  od: Patel, Anjan J, et al.
  Izdano: (2013)
• Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII
  od: Zheng, Chunlei, et al.
  Izdano: (2010)
• Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.
  od: Brackett, J C, et al.
  Izdano: (1995)