Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3-Reference-Cited by-同舟云学术

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3

Published:2019-12-27 Issue:7 Volume:31 Page:960-963
ISSN:0953-7104
Container-title:Platelets
language:en
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Author:

Lecchi Anna¹,La Marca Silvia¹,Femia Eti A¹^ORCID,Lenz Antonia²,Boeckelmann Doris²,Artoni Andrea¹,Peyvandi Flora¹³,Zieger Barbara²

Affiliation:

1. Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milano, Italy

2. Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Medical Center – University of Freiburg, Germany

3. Department of Pathophysiology and Transplantation and Fondazione Luigi Villa, Università degli Studi di Milano, Milano, Italy

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/09537104.2019.1704716

Reference36 articles.

1. Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies

2. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

3. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

4. Novel mutation in Hermansky–Pudlak syndrome type 2 with mild immunological phenotype

5. Increasing the complexity: new genes and new types of albinism

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1. New Progress in Molecular Genetics Research of Albinism;Journal of Contemporary Medical Practice;2024-08-21

2. Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7);Frontiers in Pharmacology;2022-01-19

3. A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies;Cells;2021-10-01

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