Deletions with inversions: report of a mutation and review of the literature.
作者信息
Ketterling R P, Ricke D O, Wurster M W, Sommer S S
机构信息
Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, Minnesota 55905.
出版信息
Hum Mutat. 1993;2(1):53-7. doi: 10.1002/humu.1380020110.
PMID:8477264
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.
摘要
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