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

17 Citations (Scopus)

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.

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

Fingerprint

Hemophilia B
Mutation
Factor IX
Genes
3'-(1-butylphosphoryl)adenosine

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.

Deletions with inversions : Report of a mutation and review of the literature. / Ketterling, Rhett P.; Ricke, Darrell O.; Wurster, Mark W.; Sommer, Steve S.

In: Human Mutation, Vol. 2, No. 1, 1993, p. 53-57.

Research output: Contribution to journalArticle

Ketterling, RP, Ricke, DO, Wurster, MW & Sommer, SS 1993, 'Deletions with inversions: Report of a mutation and review of the literature', Human Mutation, vol. 2, no. 1, pp. 53-57.
Ketterling RP, Ricke DO, Wurster MW, Sommer SS. Deletions with inversions: Report of a mutation and review of the literature. Human Mutation. 1993;2(1):53-57.
Ketterling, Rhett P. ; Ricke, Darrell O. ; Wurster, Mark W. ; Sommer, Steve S. / Deletions with inversions : Report of a mutation and review of the literature. In: Human Mutation. 1993 ; Vol. 2, No. 1. pp. 53-57.
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