Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype-Reference-Cited by-同舟云学术

Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype

Published:2017-11-01 Issue:1 Volume:29 Page:91-94
ISSN:0953-7104
Container-title:Platelets
language:en
Short-container-title:Platelets

Author:

Botero Juliana Perez¹,Chen Dong²³,Majerus Julie A.²,Coon Lea M.²,He Rong²³,Warad Deepti M.²,Pruthi Rajiv K.¹²³,Nichols William L.¹²³

Affiliation:

1. Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA

2. Special Coagulation Laboratory, Mayo Clinic, Rochester, MN, USA

3. Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/09537104.2017.1361019

Reference17 articles.

1. Platelet storage pool deficiency in pigs

2. Quantification of a novel dense granule protein (granulophysin) in platelets of patients with dense granule storage pool deficiency

3. 1-Desamino-8-D-arginine Vasopressin (Desmopressin) Shortens the Bleeding Time in Storage Pool Deficiency

4. Hermansky F, Pudlak P, Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959;14(2):162–169.

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