DELETIONS WITH INVERSIONS - REPORT OF A MUTATION AND REVIEW OF THE LITERATURE

Authors
KETTERLING RP RICKE DO WURSTER MW SOMMER SS
Citation
Rp. Ketterling et al., DELETIONS WITH INVERSIONS - REPORT OF A MUTATION AND REVIEW OF THE LITERATURE, Human mutation, 2(1), 1993, pp. 53-57
Citations number
34
Categorie Soggetti
Genetics & Heredity
Journal title
Human mutation → ACNP
ISSN journal
10597794
Volume
2
Issue
1
Year of publication
1993
Pages
53 - 57
Database
ISI
SICI code
1059-7794(1993)2:1<53:DWI-RO>2.0.ZU;2-6
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 fac tor IX(HB209), three of six characterized deletions in the factor IX g ene are now known to include inversions. A high frequency of combined deletions and inversions has not previously been described in a human gene.