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

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

doi:10.1002/humu.1380020110

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

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

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

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 IX_HB209). With the addition of factor IX_HB209, 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 language	English (US)
Pages (from-to)	53-57
Number of pages	5
Journal	Human mutation
Volume	2
Issue number	1
DOIs	https://doi.org/10.1002/humu.1380020110
State	Published - 1993

Keywords

Deletion junction
Germline mutation
Hemophilia B/Factor IX
Inversion junction

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.1380020110

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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. {\textcopyright} 1993 Wiley‐Liss, Inc.",

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AU - Ricke, Darrell O.

AU - Wurster, Mark W.

AU - Sommer, Steve S.

PY - 1993

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AB - 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.

KW - Deletion junction

KW - Germline mutation

KW - Hemophilia B/Factor IX

KW - Inversion junction

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

Abstract

Keywords

ASJC Scopus subject areas

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