Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing-Reference-Cited by-同舟云学术

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

Published:2019-02-17 Issue:2 Volume:51 Page:141-148
ISSN:0785-3890
Container-title:Annals of Medicine
language:en
Short-container-title:Annals of Medicine

Author:

Bastida Jose María¹^ORCID,Morais Sara²,Palma-Barqueros Veronica³,Benito Rocio⁴,Bermejo Nuria⁵,Karkucak Mutlu⁶,Trapero-Marugan Maria⁷,Bohdan Natalia³,Pereira Mónica²,Marin-Quilez Ana⁴,Oliveira Jorge⁸,Yucel Yusuf⁶,Santos Rosario⁸,Padilla Jose³,Janusz Kamila⁴,Lau Catarina²,Martin-Izquierdo Marta⁴,Couto Eduarda²,Francisco Ruiz-Pividal Juan³,Vicente Vicente³,Hernández-Rivas Jesus Maria¹⁴,González-Porras Jose Ramon¹,Luisa Lozano Maria³^ORCID,Lima Margarida²,Rivera Jose³

Affiliation:

1. Department of Hematology, University Hospital of Salamanca-IBSAL, Salamanca, Spain;

2. Department of Hematology, University Hospital of Porto-UMIB/ICBAS/UP, Porto, Portugal;

3. Department of Hematology and Oncology, University Hospital of Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, Murcia, Spain;

4. IBSAL, IBMCC, CIC, University of Salamanca-CSIC, Salamanca, Spain;

5. Department of Hematology, Hospital of San Pedro de Alcantara, Cáceres, Spain;

6. Department of Medical Genetics, Sakarya University Training and Research Hospital, Sakarya, Turkey;

7. Department of Hematology, University Hospital of Puerta de Hierro, Majadahonda, Spain;

8. Department of Molecular Genetics, Medical Center of Genetics Dr. Jacinto Magalhães, University Hospital of Porto-UMIB/ICBAS/UP, Porto, Portugal

Funder

Gerencia Regional de Salud

Instituto de Salud Carlos III

Fórum Hematológico do Norte, Porto, Portugal

Publisher

Informa UK Limited

Subject

General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/07853890.2019.1587498

Reference31 articles.

1. Molecular determinants of platelet delta storage pool deficiencies: an update

2. Hermansky-Pudlak syndrome

3. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

4. Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky–Pudlak Syndrome Patients of Hispanic Descent

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