S-EPMC6058799 - 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. - OmicsDI

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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.

ABSTRACT:

SUBMITTER: Bury L

PROVIDER: S-EPMC6058799 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of <i>ITGB3</i>: evidence of a dominant effect of gain-of-function mutations.

Bury Loredana L Zetterberg Eva E Leinøe Eva B EB Falcinelli Emanuela E Marturano Alessandro A Manni Giorgia G Nurden Alan T AT Gresele Paolo P

Haematologica 20180208 6

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