Skip to main content
Download PDF
- Main
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number
- Lyons, Jonathan J;
- Yu, Xiaomin;
- Hughes, Jason D;
- Le, Quang T;
- Jamil, Ali;
- Bai, Yun;
- Ho, Nancy;
- Zhao, Ming;
- Liu, Yihui;
- O'Connell, Michael P;
- Trivedi, Neil N;
- Nelson, Celeste;
- DiMaggio, Thomas;
- Jones, Nina;
- Matthews, Helen;
- Lewis, Katie L;
- Oler, Andrew J;
- Carlson, Ryan J;
- Arkwright, Peter D;
- Hong, Celine;
- Agama, Sherene;
- Wilson, Todd M;
- Tucker, Sofie;
- Zhang, Yu;
- McElwee, Joshua J;
- Pao, Maryland;
- Glover, Sarah C;
- Rothenberg, Marc E;
- Hohman, Robert J;
- Stone, Kelly D;
- Caughey, George H;
- Heller, Theo;
- Metcalfe, Dean D;
- Biesecker, Leslie G;
- Schwartz, Lawrence B;
- Milner, Joshua D
Published Web Location
https://doi.org/10.1038/ng.3696Abstract
Joshua Milner and colleagues show that increased TPSAB1 copy number causes a multisystem disorder marked by elevated basal serum tryptase levels. Shared symptoms in affected individuals include irritable bowel syndrome, cutaneous flushing and pruritus, connective tissue abnormalities and dysautonomia.
Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.