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

Ítems similars

• Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin
  per: Zhang, Bin, et al.
  Publicat: (2011)
• Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1
  per: Patel, Anjan J, et al.
  Publicat: (2013)
• Recent developments in the understanding of the combined deficiency of FV and FVIII
  per: Zhang, Bin
  Publicat: (2009)
• JAK3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site
  per: Platt, Craig D., et al.
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• Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII
  per: Zheng, Chunlei, et al.
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