EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis-Reference-Cited by-同舟云学术

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EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis

Published:2016-06-13 Issue:10 Volume:21 Page:619-622
ISSN:1607-8454
Container-title:Hematology
language:en
Short-container-title:Hematology

Author:

Alaikov Tzvetan¹,Ivanova Milena²,Shivarov Velizar¹³^ORCID

Affiliation:

1. Department of Clinical Hematology, Sofiamed University Hospital, Sofia, Bulgaria

2. Laboratory of Clinical Immunology, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria

3. Laboratory of Clinical Immunology, Sofiamed University Hospital, Sofia, Bulgaria

Publisher

Informa UK Limited

Subject

Hematology,Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/10245332.2016.1192394

Reference10 articles.

1. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

2. The HIF Pathway and Erythrocytosis

3. Two new mutations in the HIF2A gene associated with erythrocytosis

4. A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis

5. Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

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1. Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome;Communications Biology;2024-02-28

2. Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosis;Haematologica;2023-01-26

3. Congenital erythrocytosis – A condition behind recurrent thromboses: A case report and literature review;Clinical Hemorheology and Microcirculation;2021-12-17

4. Identification of Novel Mutations and Expressions of EPAS1 in Phaeochromocytomas and Paragangliomas;Genes;2020-10-24

5. Molecular Deregulation of EPAS1 in the Pathogenesis of Esophageal Squamous Cell Carcinoma;Frontiers in Oncology;2020-09-11

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