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Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster.

Alexander CouzensAurelien LebretonFrédéric MasclauxMichel GuipponiCéline Pebrel-RichardFanny LaffarguePiotr GembaraAlessandro CasiniMarguerite Neerman-Arbez
Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2022)
Keyphrases
  • case report
  • early onset
  • copy number
  • genome wide
  • genome wide identification
  • dna methylation