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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

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 › Author Affiliations 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)

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* Joint first authors.


 

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