A homozygous is bp insertion in the human factor vu gene results in modification of a calcium binding site and reduced secretion/function

Research output: Contribution to journalArticle

Abstract

We have previously reported the first homozygous 15 bp in-frame insertion type mutation at nucleotide 10554, within the catalytic domain of the human factor VII (FVII) gene. This mutation arises as a result of a duplication of residues Leu213 to Asp217 (Leu, Ser, GIu, His, Asp), probably by slipped mispairing between 2 copies of a direct repeat (GCGAGCACGAC) separated by 4 bp. The mutation was identified in an Arabic child and results in a severe type I deficiency (FVII:C

Original languageEnglish
JournalBlood
Volume96
Issue number11 PART I
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Hematology

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