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A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families.

AuthorsHsuan-Yu Lin, Jen-Shiou Lin, Woei Tsay, Po-Te Lin, Ying-Chih Huang, Ming-Ching Shen
JournalHaemophilia : the official journal of the World Federation of Hemophilia (Haemophilia) Vol. 28 Issue 1 Pg. e28-e31 (Jan 2022) ISSN: 1365-2516 [Electronic] England
PMID34766420 (Publication Type: Letter)
Chemical References
  • LMAN1 protein, human
  • Mannose-Binding Lectins
  • Membrane Proteins
  • Factor V
  • Factor VIII
Topics
  • Factor V (genetics)
  • Factor V Deficiency (genetics)
  • Factor VIII (genetics)
  • Hemophilia A (genetics)
  • Humans
  • Mannose-Binding Lectins (genetics)
  • Membrane Proteins (genetics)
  • Mutation

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