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A novel variant glanzmann thrombasthenia due to co-inheritance of a loss-and a gain-of-function mutation of ITGB3 : Evidence of a dominant effect of gain-of-function mutations

Bury, Loredana ; Zetterberg, Eva LU ; Leinøe, Eva B. ; Falcinelli, Emanuela ; Marturano, Alessandro ; Manni, Giorgia ; Nurden, Alan T. and Gresele, Paolo (2018) In Haematologica 103(6). p.259-263
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
in
Haematologica
volume
103
issue
6
pages
259 - 263
publisher
Ferrata Storti Foundation
external identifiers
  • pmid:29439184
  • scopus:85048045113
ISSN
0390-6078
DOI
10.3324/haematol.2017.180927
language
English
LU publication?
no
id
0af55942-39d2-4349-ab7b-e45de86217c0
date added to LUP
2018-06-19 12:58:47
date last changed
2025-10-15 22:39:50
@article{0af55942-39d2-4349-ab7b-e45de86217c0,
  author       = {{Bury, Loredana and Zetterberg, Eva and Leinøe, Eva B. and Falcinelli, Emanuela and Marturano, Alessandro and Manni, Giorgia and Nurden, Alan T. and Gresele, Paolo}},
  issn         = {{0390-6078}},
  language     = {{eng}},
  month        = {{06}},
  number       = {{6}},
  pages        = {{259--263}},
  publisher    = {{Ferrata Storti Foundation}},
  series       = {{Haematologica}},
  title        = {{A novel variant glanzmann thrombasthenia due to co-inheritance of a loss-and a gain-of-function mutation of ITGB3 : Evidence of a dominant effect of gain-of-function mutations}},
  url          = {{http://dx.doi.org/10.3324/haematol.2017.180927}},
  doi          = {{10.3324/haematol.2017.180927}},
  volume       = {{103}},
  year         = {{2018}},
}