Deletions with inversions: report of a mutation and review of the literature.
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.
Ketterling
R P
RP
Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, Minnesota 55905.
Ricke
D O
DO
Wurster
M W
MW
Sommer
S S
SS
D001483:Base Sequence; D007446:Chromosome Inversion; D004247:DNA; D005164:Factor IX / Q000235:genetics*; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D017384:Sequence Deletion
D005164:Factor IX; D004247:DNA