Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing-Reference-Cited by-同舟云学术

Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing

Published:2021-01-05 Issue:8 Volume:32 Page:1108-1112
ISSN:0953-7104
Container-title:Platelets
language:en
Short-container-title:Platelets

Author:

Hou Yu¹²,Shao Linlin¹,Zhou Hai¹,Liu Yanfeng²,Fisk Dianna G.³,Spiteri Elizabeth³⁴,Zehnder James L.⁴,Peng Jun¹²,Zhang Bing M.⁴,Hou Ming¹²⁵

Affiliation:

1. Department of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China

2. Shandong Provincial Key Laboratory of Immunohematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China

3. Clinical Genomics Program, Stanford Health Care, Palo Alto, United States

4. Department of Pathology, Stanford University School of Medicine, Palo Alto, United States

5. Leading Research Group of Scientific Innovation, Department of Science and Technology of Shandong Province, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China

Funder

Shandong University

National Natural Science Foundation of China

Major Research and Development Plan of Shandong Province

State Key Clinical Specialty of China for Blood Disorders

Young Taishan Scholar Foundation of Shandong Province

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/09537104.2020.1869714

Reference41 articles.

1. Congenital macrothrombocytopenias

2. Congenital disorders associated with platelet dysfunctions

3. Congenital macrothrombocytopenia is a heterogeneous disorder in India

4. A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly

5. High-throughput platelet spreading analysis: a tool for the diagnosis of platelet-based bleeding disorders

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The tubulin database: Linking mutations, modifications, ligands and local interactions;PLOS ONE;2023-12-08

2. Adaptive Active Voltage-Type Arc Suppression Strategy Considering the Influence of Line Parameters in Active Distribution Network;IEEE Transactions on Industrial Electronics;2023-05

3. A Differential Wideband Circularly Polarized Laminated Resonator Antenna;IEEE Antennas and Wireless Propagation Letters;2023-02

4. Improvement of YX42° Cut LiTaO3 SAW Filters with Optical Proximity Effect Correction Method;Micromachines;2023-01-13

5. Expanding the genetic spectrum of TUBB1-related thrombocytopenia;Blood Advances;2021-12-16