Thromb Haemost 2013; 109(04): 766-768
DOI: 10.1160/TH12-11-0876
Letters to the Editor
Schattauer GmbH

Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: Identification of the second HPS7 mutation in a patient presenting late in life

Authors

  • Gillian C. Lowe*

    1   Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK
  • Isabel Sánchez Guiu*

    1   Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK
    2   Regional Blood Donation Centre and University of Murcia, Spain
  • Oliver Chapman

    3   Haemophilia Centre, University Hospitals Coventry and Warwickshire NHS Trust, Clifford Bridge Road, Coventry, UK
  • José Rivera

    2   Regional Blood Donation Centre and University of Murcia, Spain
  • Marie Lordkipanidzé

    1   Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK
  • Natalia Dovlatova

    1   Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK
    4   Thrombosis and Haemostasis Research Group, Queen’s Medical Centre, University of Nottingham, Nottingham, UK
  • Jonathan Wilde

    5   West Midlands Adult Haemophilia Comprehensive Care Centre, University Hospital Birmingham, Edgbaston, Birmingham, UK
  • Steve P. Watson

    1   Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK
  • Neil V. Morgan

    1   Birmingham Platelet Group, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK
  • on behalf of the UK GAPP collaborative

Financial support: This work was funded by the Wellcome Trust (093994), the British Heart Foundation (RG/09/007/27917) and Instituto de Salud Carlos III (ISG, FI10/00535 and JRP, PI10/02594).
Further Information

Publication History

Received: 28 November 2012

Accepted after major revision: 17 January 2013

Publication Date:
22 November 2017 (online)

 

* Joint first authors.