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

Forskningsoutput: Tidskriftsbidrag › Letter › Peer review

Originalspråk	engelska
Sidor (från-till)	e259-e263
Tidskrift	Haematologica
Volym	103
Nummer	6
DOI	https://doi.org/10.3324/haematol.2017.180927
Status	Published - 2018 juni 3
Externt publicerad	Ja

Ämnesklassifikation (UKÄ)

Hematologi

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10.3324/haematol.2017.180927

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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

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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",

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",

year = "2018",

month = jun,

day = "3",

doi = "10.3324/haematol.2017.180927",

language = "English",

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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, vol. 103, nr. 6, s. e259-e263. https://doi.org/10.3324/haematol.2017.180927

TY - JOUR

T1 - A novel variant glanzmann thrombasthenia due to co-inheritance of a loss-and a gain-of-function mutation of ITGB3

T2 - Evidence of a dominant effect of gain-of-function mutations

AU - Bury, Loredana

AU - Zetterberg, Eva

AU - Leinøe, Eva B.

AU - Falcinelli, Emanuela

AU - Marturano, Alessandro

AU - Manni, Giorgia

AU - Nurden, Alan T.

AU - Gresele, Paolo

PY - 2018/6/3

Y1 - 2018/6/3

UR - http://www.scopus.com/inward/record.url?scp=85048045113&partnerID=8YFLogxK

U2 - 10.3324/haematol.2017.180927

DO - 10.3324/haematol.2017.180927

M3 - Letter

C2 - 29439184

AN - SCOPUS:85048045113

SN - 0390-6078

VL - 103

SP - e259-e263

JO - Haematologica

JF - Haematologica

IS - 6

ER -