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Factor XIII, A subunit, deficiency of

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Description

Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

89

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Genes

External Links

  • OMIM

    613225

  • Orphanet
  • Medgen

    C2750514

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