Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 cop...
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number
About this item
Full title
Author / Creator
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 and Milner, Joshua D
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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.
Elevated basal serum tryptase levels a...
Alternative Titles
Full title
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5397297
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5397297
Other Identifiers
ISSN
1061-4036,1546-1718
E-ISSN
1546-1718
DOI
10.1038/ng.3696
