Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

ML Jones; SL Murden; Danai Bem; SJ Mundell; Paul Gissen; ME Daly; Steve Watson; AD Mumford

doi:10.1111/j.1538-7836.2011.04569.x

Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

ML Jones, SL Murden, Danai Bem, SJ Mundell, Paul Gissen, ME Daly, Steve Watson, AD Mumford

Research output: Contribution to journal › Article › peer-review

21 Citations (Scopus)

Original language	English
Pages (from-to)	306
Number of pages	309
Journal	Journal of Thrombosis and Haemostasis
Volume	10
Issue number	2
DOIs	https://doi.org/10.1111/j.1538-7836.2011.04569.x
Publication status	Published - 24 Nov 2011

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10.1111/j.1538-7836.2011.04569.x

Mapping and Functional Investigation of Genetic Mutations in Patients with Mild, Platelet Bleeding Disorders
Watson, S. (Principal Investigator)
British Heart Foundation
1/02/10 → 31/01/15
Project: Research

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AU - Mundell, SJ

AU - Gissen, Paul

AU - Daly, ME

AU - Watson, Steve

AU - Mumford, AD

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Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

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Projects

Mapping and Functional Investigation of Genetic Mutations in Patients with Mild, Platelet Bleeding Disorders

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