Article
Inherited and acquired variations in the hyaluronan synthase 1 (HAS1) gene may contribute to disease progression in multiple myeloma and Waldenstrom macroglobulinemia.
Blood - 15 Dec 2008
Adamia Sophia, Reichert Amanda A, Kuppusamy Hemalatha, Kriangkum Jitra, Ghosh Anirban, Hodges Jennifer J, Pilarski Patrick M, Treon Steven P, Mant Michael J, Reiman Tony, Belch Andrew R, Pilarski Linda M
Abstract excerpt
To characterize genetic contributions toward aberrant splicing of the hyaluronan synthase 1 (HAS1) gene in multiple myeloma (MM) and Waldenstrom macroglobulinemia (WM), we sequenced 3616 bp in HAS1 exons and introns involved in aberrant splicing, from 17 patients. We identified a total of 197 HAS1 genetic variations (GVs), a range of 3 to 24 GVs/patient, including 87 somatic GVs acquired in splicing regions of...
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