Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency-Reference-Cited by-同舟云学术

Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency

Published:2021-08-02 Issue:9 Volume:35 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Zhang Xiaoyu¹^ORCID,Wang Shuwen¹,Leng Shaoqiu¹,Feng Qi¹,Zhang Yanqi²³,Xu Shuqian¹,Zhang Lei⁴,Zhang Xinsheng⁵,Fang Yunhai⁵,Peng Jun¹⁴,Sheng Zi¹⁶

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. Key Laboratory of Cardiovascular Remodeling and Function Research Chinese Ministry of Education and Chinese Ministry of Health Qilu Hospital Cheeloo College of Medicine Shandong University Jinan China

4. State Key Laboratory of Experimental Hematology Institute of Hematology and Blood Disease Hospital Chinese Academy of Medical Sciences and Peking Union Medical CollegeTianjin China

5. Shandong Blood Center Shandong Hemophilia Treatment CenterJinan China

6. School of Medicine Cheeloo College of Medicine Shandong University Jinan China

Funder

National Natural Science Foundation of China

China Postdoctoral Science Foundation

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry, medical,Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.23905

Reference31 articles.

1. Clinical manifestations, management, and molecular genetics in congenital factor VII deficiency: the International Registry on Congenital Factor VII Deficiency (IRF7)

2. Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

3. A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency

4. Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency

5. A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology

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1. Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency;Frontiers in Medicine;2023-07-14

2. Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report;Journal of Clinical Laboratory Analysis;2022-12-26

3. Coagulation Factor VII: Genetic, Molecular, and Clinical Characteristics;Trends in Medical Sciences;2022-06-22