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Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.

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Title: Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Authors: Chan MV; Queen Mary, University of London., Hayman MA; Queen Mary, University of London., Sivapalaratnam S; University of Cambridge., Crescente M; Queen Mary, University of London., Allan HE; Queen Mary, University of London., Edin ML; National Institutes of Health, National Institute of Environmental Health Sciences., Zeldin DC; National Institutes of Health, National Institute of Environmental Health Sciences., Milne GL; Vanderbilt University Medical Center., Stephens J; University of Cambridge., Greene D; University of Cambridge., Hanif M; Barts Health National Health Service Trust., O'Donnell VB; Cardiff University., Dong L; University of Buffalo., Malkowski MG; University of Buffalo., Lentaigne C; Imperial College Healthcare National Health Service Trust., Wedderburn K; University of Cambridge., Stubbs M; Imperial College Healthcare National Health Service Trust., Downes K; University of Cambridge., Ouwehand WH; University of Cambridge National Blood Service Centre., Turro E; University of Cambridge., BioResource N, Hart DP; Queen Mary University of London., Freson K; University of Leuven., Laffan MA; Imperial College London., Warner TD; Queen Mary University of London.
Source: Haematologica [Haematologica] 2021 May 01; Vol. 106 (5), pp. 1423-1432. Date of Electronic Publication: 2021 May 01.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 32299908
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
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  Data: <searchLink fieldCode="AU" term="%22Chan+MV%22">Chan MV</searchLink>; Queen Mary, University of London.<br /><searchLink fieldCode="AU" term="%22Hayman+MA%22">Hayman MA</searchLink>; Queen Mary, University of London.<br /><searchLink fieldCode="AU" term="%22Sivapalaratnam+S%22">Sivapalaratnam S</searchLink>; University of Cambridge.<br /><searchLink fieldCode="AU" term="%22Crescente+M%22">Crescente M</searchLink>; Queen Mary, University of London.<br /><searchLink fieldCode="AU" term="%22Allan+HE%22">Allan HE</searchLink>; Queen Mary, University of London.<br /><searchLink fieldCode="AU" term="%22Edin+ML%22">Edin ML</searchLink>; National Institutes of Health, National Institute of Environmental Health Sciences.<br /><searchLink fieldCode="AU" term="%22Zeldin+DC%22">Zeldin DC</searchLink>; National Institutes of Health, National Institute of Environmental Health Sciences.<br /><searchLink fieldCode="AU" term="%22Milne+GL%22">Milne GL</searchLink>; Vanderbilt University Medical Center.<br /><searchLink fieldCode="AU" term="%22Stephens+J%22">Stephens J</searchLink>; University of Cambridge.<br /><searchLink fieldCode="AU" term="%22Greene+D%22">Greene D</searchLink>; University of Cambridge.<br /><searchLink fieldCode="AU" term="%22Hanif+M%22">Hanif M</searchLink>; Barts Health National Health Service Trust.<br /><searchLink fieldCode="AU" term="%22O'Donnell+VB%22">O'Donnell VB</searchLink>; Cardiff University.<br /><searchLink fieldCode="AU" term="%22Dong+L%22">Dong L</searchLink>; University of Buffalo.<br /><searchLink fieldCode="AU" term="%22Malkowski+MG%22">Malkowski MG</searchLink>; University of Buffalo.<br /><searchLink fieldCode="AU" term="%22Lentaigne+C%22">Lentaigne C</searchLink>; Imperial College Healthcare National Health Service Trust.<br /><searchLink fieldCode="AU" term="%22Wedderburn+K%22">Wedderburn K</searchLink>; University of Cambridge.<br /><searchLink fieldCode="AU" term="%22Stubbs+M%22">Stubbs M</searchLink>; Imperial College Healthcare National Health Service Trust.<br /><searchLink fieldCode="AU" term="%22Downes+K%22">Downes K</searchLink>; University of Cambridge.<br /><searchLink fieldCode="AU" term="%22Ouwehand+WH%22">Ouwehand WH</searchLink>; University of Cambridge National Blood Service Centre.<br /><searchLink fieldCode="AU" term="%22Turro+E%22">Turro E</searchLink>; University of Cambridge.<br /><searchLink fieldCode="AU" term="%22BioResource+N%22">BioResource N</searchLink><br /><searchLink fieldCode="AU" term="%22Hart+DP%22">Hart DP</searchLink>; Queen Mary University of London.<br /><searchLink fieldCode="AU" term="%22Freson+K%22">Freson K</searchLink>; University of Leuven.<br /><searchLink fieldCode="AU" term="%22Laffan+MA%22">Laffan MA</searchLink>; Imperial College London.<br /><searchLink fieldCode="AU" term="%22Warner+TD%22">Warner TD</searchLink>; Queen Mary University of London.
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  Data: <searchLink fieldCode="JN" term="%220417435%22">Haematologica</searchLink> [Haematologica] 2021 May 01; Vol. 106 (5), pp. 1423-1432. <i>Date of Electronic Publication: </i>2021 May 01.
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  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Ferrata+Storti+Foundation%22">Ferrata Storti Foundation </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>0417435 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1592-8721 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203906078%22">03906078 </searchLink><i>NLM ISO Abbreviation: </i>Haematologica <i>Subsets: </i>MEDLINE
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        Value: 10.3324/haematol.2019.235895
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        Text: English
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              Text: 2021 May 01
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