Deletions with inversions: Report of a mutation and review of the literature

Rhett P. Ketterling, Darrell O. Ricke, Mark W. Wurster, Steve S. Sommer

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Herein we report a 10.9 kb deletion and a 95 bp inversion in a patient with severe hemophilia B (factor IXHB209). With the addition of factor IXHB209, three of six characterized deletions in the factor IX gene are now known to include inversions. A high frequency of combined deletions and inversions has not previously been described in a human gene. © 1993 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)53-57
Number of pages5
JournalHuman mutation
Volume2
Issue number1
DOIs
StatePublished - 1993

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Keywords

  • Deletion junction
  • Germline mutation
  • Hemophilia B/Factor IX
  • Inversion junction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ketterling, R. P., Ricke, D. O., Wurster, M. W., & Sommer, S. S. (1993). Deletions with inversions: Report of a mutation and review of the literature. Human mutation, 2(1), 53-57. https://doi.org/10.1002/humu.1380020110