A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia
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| Veröffentlicht in: | British journal of haematology 2020-12, Vol.191 (5), p.e124-e128 |
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| container_title | British journal of haematology |
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| creator | Busonero, Fabio Steri, Maristella Orrù, Valeria Sole, Gabriella Olla, Stefania Marongiu, Michele Maschio, Andrea Sidore, Carlo Lai, Sandra Mulas, Antonella Zoledziewska, Magdalena Floris, Matteo Pala, Mauro Forabosco, Paola Asunis, Isadora Pitzalis, Maristella Deidda, Francesca Masala, Marco Caria, Cristian Antonio Barella, Susanna Abecasis, Goncalo R. Schlessinger, David Sanna, Serena Fiorillo, Edoardo Cucca, Francesco |
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| doi_str_mv | 10.1111/bjh.17090 |
| format | Article |
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genetics</subject><subject>platelet glycoproteins</subject><subject>Thrombocytopenia</subject><subject>Thrombocytopenia - genetics</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kUFLHDEYhkNpqdvVQ_9ACfSih9Evk5lM5iK40qpFUGg9hySTcbPOJNMk07L_vrFrpS2YS_jIw5P340XoPYFjks-J2qyPSQMtvEILQlldlKQir9ECAJqCQMX30LsYNwCEQk3eoj1KS8LaplmghzP8VYbOOisd7v3sOhPwOCeZrHfYOnw_bLWfgk8mD1cKT4NMZjAJx1nNziasTJL48OKWrFZHOK1lwnacpE4xD8GPyutt8pPJH-yjN70cojl4upfo7vOnb-eXxfXNxdX52XWhq4pCwWujWFfqsoKGtqySzBDVkI5p1fa9rDllXFMOtYaqLykv21Z1fVlrQonslKRLdLrzTrMaTaeNS0EOYgp2lGErvLTi3xdn1-Le_xC8JsBpnQWHT4Lgv88mJjHaqM0wSGf8HEVZMQptCznKEn38D934Obi83iPFGKfZmKmjHaWDjzGY_jkMAfFYocgVit8VZvbD3-mfyT-dZeBkB_y0g9m-bBKrL5c75S_yWaY-</recordid><startdate>202012</startdate><enddate>202012</enddate><creator>Busonero, Fabio</creator><creator>Steri, Maristella</creator><creator>Orrù, Valeria</creator><creator>Sole, Gabriella</creator><creator>Olla, Stefania</creator><creator>Marongiu, Michele</creator><creator>Maschio, Andrea</creator><creator>Sidore, Carlo</creator><creator>Lai, Sandra</creator><creator>Mulas, Antonella</creator><creator>Zoledziewska, Magdalena</creator><creator>Floris, Matteo</creator><creator>Pala, Mauro</creator><creator>Forabosco, Paola</creator><creator>Asunis, Isadora</creator><creator>Pitzalis, Maristella</creator><creator>Deidda, Francesca</creator><creator>Masala, Marco</creator><creator>Caria, Cristian Antonio</creator><creator>Barella, Susanna</creator><creator>Abecasis, Goncalo R.</creator><creator>Schlessinger, David</creator><creator>Sanna, Serena</creator><creator>Fiorillo, Edoardo</creator><creator>Cucca, Francesco</creator><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-3033-6133</orcidid><orcidid>https://orcid.org/0000-0003-3447-7440</orcidid><orcidid>https://orcid.org/0000-0001-5869-3872</orcidid><orcidid>https://orcid.org/0000-0003-4385-9336</orcidid><orcidid>https://orcid.org/0000-0001-5556-9964</orcidid><orcidid>https://orcid.org/0000-0002-4622-3352</orcidid><orcidid>https://orcid.org/0000-0002-3768-1749</orcidid><orcidid>https://orcid.org/0000-0002-7414-1995</orcidid><orcidid>https://orcid.org/0000-0002-7289-9815</orcidid><orcidid>https://orcid.org/0000-0002-8690-4988</orcidid><orcidid>https://orcid.org/0000-0002-6806-3492</orcidid><orcidid>https://orcid.org/0000-0001-8735-671X</orcidid><orcidid>https://orcid.org/0000-0002-6856-1483</orcidid><orcidid>https://orcid.org/0000-0003-1509-1825</orcidid><orcidid>https://orcid.org/0000-0001-5292-5038</orcidid><orcidid>https://orcid.org/0000-0002-6047-4625</orcidid><orcidid>https://orcid.org/0000-0003-4975-6987</orcidid><orcidid>https://orcid.org/0000-0001-7504-7477</orcidid><orcidid>https://orcid.org/0000-0002-4238-9144</orcidid><orcidid>https://orcid.org/0000-0003-0921-2045</orcidid><orcidid>https://orcid.org/0000-0002-2006-2693</orcidid><orcidid>https://orcid.org/0000-0002-3165-5291</orcidid><orcidid>https://orcid.org/0000-0002-1952-7836</orcidid></search><sort><creationdate>202012</creationdate><title>A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia</title><author>Busonero, Fabio ; Steri, Maristella ; Orrù, Valeria ; Sole, Gabriella ; Olla, Stefania ; Marongiu, Michele ; Maschio, Andrea ; Sidore, Carlo ; Lai, Sandra ; Mulas, Antonella ; Zoledziewska, Magdalena ; Floris, Matteo ; Pala, Mauro ; Forabosco, Paola ; Asunis, Isadora ; Pitzalis, Maristella ; Deidda, Francesca ; Masala, Marco ; Caria, Cristian Antonio ; Barella, Susanna ; Abecasis, Goncalo R. ; Schlessinger, David ; Sanna, Serena ; Fiorillo, Edoardo ; Cucca, Francesco</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4430-85eb6d2c24073964a6e1b71d6cb9ffa58368c3805c04f238299bdf25c131adba3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>bernard‐Soulier syndrome</topic><topic>Female</topic><topic>Founder Effect</topic><topic>functional studies</topic><topic>genetic analysis</topic><topic>GP1BB</topic><topic>Hematology</topic><topic>Humans</topic><topic>Italy</topic><topic>Male</topic><topic>Mutation</topic><topic>platelet count</topic><topic>Platelet Glycoprotein GPIb-IX Complex - 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| subjects | bernard‐Soulier syndrome Female Founder Effect functional studies genetic analysis GP1BB Hematology Humans Italy Male Mutation platelet count Platelet Glycoprotein GPIb-IX Complex - genetics platelet glycoproteins Thrombocytopenia Thrombocytopenia - genetics |
| title | A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia |
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