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 Lowe; I. Sánchez Guiu; O. Chapman; J. Rivera; M. Lordkipanidzé; N. Dovlatova; J. Wilde; S. P. Watson; N. V. Morgan

doi:10.1160/TH12-11-0876

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 Lowe
, I. Sánchez Guiu
, O. Chapman
, J. Rivera
, M. Lordkipanidzé
, N. Dovlatova
, J. Wilde
, S. P. Watson
, N. V. Morgan

Research output: Contribution to journal › Letter

13 Citations (Scopus)

Original language	English
Pages (from-to)	766-768
Journal	Thrombosis and Haemostasis
Volume	109
Issue number	4
Early online date	31 Jan 2013
DOIs	https://doi.org/10.1160/TH12-11-0876
Publication status	Published - Apr 2013

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10.1160/TH12-11-0876Licence: None: All rights reserved

Do Patients who Exhibit Serious Bleeds on Anti-Platelet Therapy have a Previously Undiagnosed Defect in Platelet Function
Watson, S. (Principal Investigator)
British Heart Foundation
1/06/11 → 31/05/13
Project: Research
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

Cite this

Lowe, G., Sánchez Guiu, I., Chapman, O., Rivera, J., Lordkipanidzé, M., Dovlatova, N., Wilde, J., Watson, S. P., & Morgan, N. V. (2013). 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. Thrombosis and Haemostasis, 109(4), 766-768. https://doi.org/10.1160/TH12-11-0876

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title = "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",

author = "Gillian Lowe and \{S{\'a}nchez Guiu\}, I. and O. Chapman and J. Rivera and M. Lordkipanidz{\'e} and N. Dovlatova and J. Wilde and Watson, \{S. P.\} and Morgan, \{N. V.\}",

year = "2013",

month = apr,

doi = "10.1160/TH12-11-0876",

language = "English",

volume = "109",

pages = "766--768",

journal = "Thrombosis and Haemostasis",

issn = "0340-6245",

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}

Lowe, G, Sánchez Guiu, I, Chapman, O, Rivera, J, Lordkipanidzé, M, Dovlatova, N, Wilde, J, Watson, SP & Morgan, NV 2013, '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', Thrombosis and Haemostasis, vol. 109, no. 4, pp. 766-768. https://doi.org/10.1160/TH12-11-0876

TY - JOUR

T1 - Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome

T2 - identification of the second HPS7 mutation in a patient presenting late in life

AU - Lowe, Gillian

AU - Sánchez Guiu, I.

AU - Chapman, O.

AU - Rivera, J.

AU - Lordkipanidzé, M.

AU - Dovlatova, N.

AU - Wilde, J.

AU - Watson, S. P.

AU - Morgan, N. V.

PY - 2013/4

Y1 - 2013/4

U2 - 10.1160/TH12-11-0876

DO - 10.1160/TH12-11-0876

M3 - Letter

SN - 0340-6245

VL - 109

SP - 766

EP - 768

JO - Thrombosis and Haemostasis

JF - Thrombosis and Haemostasis

IS - 4

ER -

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

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Projects

Do Patients who Exhibit Serious Bleeds on Anti-Platelet Therapy have a Previously Undiagnosed Defect in Platelet Function

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

Cite this