αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

Sara Morais; Jorge Oliveira; Catarina Lau; Mónica Pereira; Marta Gonçalves; Catarina Monteiro; Ana Rita Gonçalves; Rui Matos; Marco Sampaio; Eugénia Cruz; Inês Freitas; Rosário Santos; Margarida Lima

doi:10.1371/journal.pone.0235136

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Open Access

Peer-reviewed

Research Article

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

Sara Morais ,

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

* E-mail: saratsmorais@hotmail.com

Affiliations Setor de Trombose e Hemostase, Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal, Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal

https://orcid.org/0000-0003-4266-4457

⨯
Jorge Oliveira,

Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Resources, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliations Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal, Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães (CGMJM), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal
⨯
Catarina Lau,

Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – review & editing

Affiliations Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal, Laboratório de Citometria, Unidade de Diagnóstico Hematológico, Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal
⨯
Mónica Pereira,

Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliations Setor de Trombose e Hemostase, Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal, Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal
⨯
Marta Gonçalves,

Roles Data curation, Formal analysis, Investigation, Methodology, Visualization

Affiliations Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal, Laboratório de Citometria, Unidade de Diagnóstico Hematológico, Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal
⨯
Catarina Monteiro,

Roles Data curation, Formal analysis, Investigation, Methodology, Visualization

Affiliations Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal, Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães (CGMJM), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal

https://orcid.org/0000-0002-6659-4951

⨯
Ana Rita Gonçalves,

Roles Data curation, Formal analysis, Investigation, Methodology, Visualization

Affiliations Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal, Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães (CGMJM), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal

https://orcid.org/0000-0002-3917-2323

⨯
Rui Matos,

Roles Data curation, Formal analysis, Investigation, Methodology, Visualization

Affiliation Setor de Trombose e Hemostase, Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal
⨯
Marco Sampaio,

Roles Data curation, Formal analysis, Visualization

Affiliations Setor de Trombose e Hemostase, Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal, Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal

https://orcid.org/0000-0001-9171-003X

⨯
Eugénia Cruz,

Roles Data curation, Formal analysis, Investigation, Visualization, Writing – review & editing

Affiliation Setor de Trombose e Hemostase, Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal
⨯
Inês Freitas,

Roles Data curation, Formal analysis, Investigation, Visualization

Affiliations Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal, Serviço de Hematologia Laboratorial, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal
⨯
Rosário Santos,

Roles Investigation, Visualization, Writing – review & editing

Affiliations Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal, Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães (CGMJM), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal
⨯
Margarida Lima

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliations Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal, Laboratório de Citometria, Unidade de Diagnóstico Hematológico, Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal
⨯

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

Sara Morais,
Jorge Oliveira,
Catarina Lau,
Mónica Pereira,
Marta Gonçalves,
Catarina Monteiro,
Ana Rita Gonçalves,
Rui Matos,
Marco Sampaio,
Eugénia Cruz

Published: December 4, 2020
https://doi.org/10.1371/journal.pone.0235136

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