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Deletions with inversions: Report of a mutation and review of the literature
Author(s) -
Ketterling Rhett P.,
Ricke Darrell O.,
Wurster Mark W.,
Sommer Steve S.
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020110
Subject(s) - biology , genetics , factor ix , gene , mutation , chromosomal inversion , computational biology , karyotype , chromosome
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.
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