Journal article : Comment
Familial thrombocytopenia: the long and short of it
- Abstract:
- In this issue, Wahlster, Verboon, and colleagues (2021. J. Exp. Med.https://doi.org/10.1084/jem.20210444) describe a multigenerational family with inherited thrombocytopenia where the causal variant was not identified using conventional genome sequencing approaches. Long-read sequencing and RNA sequencing revealed a complex structural variant, causing overexpression of a pathogenic gain-of-function WAC-ANKRD26 fusion transcript.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, 975.0KB, Terms of use)
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- Publisher copy:
- 10.1084/jem.20210604
Authors
Bibliographic Details
- Publisher:
- Rockefeller University Press
- Journal:
- Journal of Experimental Medicine More from this journal
- Volume:
- 218
- Issue:
- 6
- Article number:
- e20210604
- Publication date:
- 2021-06-07
- DOI:
- EISSN:
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1540-9538
- ISSN:
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0022-1007
- Pmid:
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34014260
Item Description
- Language:
-
English
- Keywords:
- Subtype:
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Comment
- Pubs id:
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1179593
- Local pid:
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pubs:1179593
- Deposit date:
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2022-02-21
Terms of use
- Copyright holder:
- Murphy and Mead.
- Copyright date:
- 2021
- Rights statement:
- ©2021 Murphy and Mead. This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms/). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 International license, as described at https://creativecommons.org/licenses/by-nc-sa/4.0/).
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