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

Loredana Bury; Eva Zetterberg; Eva B Leinøe; Emanuela Falcinelli; Alessandro Marturano; Giorgia Manni; Alan T Nurden; Paolo Gresele

doi:10.3324/haematol.2017.180927

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

Loredana Bury, Eva Zetterberg, Eva B Leinøe, Emanuela Falcinelli, Alessandro Marturano, Giorgia Manni, Alan T Nurden, Paolo Gresele

16 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Haematologica
Vol/bind	103
Udgave nummer	6
Sider (fra-til)	e259-e263
ISSN	0390-6078
DOI	https://doi.org/10.3324/haematol.2017.180927
Status	Udgivet - jun. 2018

Adgang til dokumentet

10.3324/haematol.2017.180927

Citationsformater

Bury, L., Zetterberg, E., Leinøe, E. B., Falcinelli, E., Marturano, A., Manni, G., Nurden, A. T., & Gresele, P. (2018). 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. Haematologica, 103(6), e259-e263. https://doi.org/10.3324/haematol.2017.180927

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; Leinøe, Eva B et al.
I: Haematologica, Bind 103, Nr. 6, 06.2018, s. e259-e263.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Bury, L, Zetterberg, E, Leinøe, EB, Falcinelli, E, Marturano, A, Manni, G, Nurden, AT & Gresele, P 2018, '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', Haematologica, bind 103, nr. 6, s. e259-e263. https://doi.org/10.3324/haematol.2017.180927

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author = "Loredana Bury and Eva Zetterberg and Lein{\o}e, {Eva B} and Emanuela Falcinelli and Alessandro Marturano and Giorgia Manni and Nurden, {Alan T} and Paolo Gresele",

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