Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins-Reference-Cited by-同舟云学术

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Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins

Published:2018-08-28 Issue:5 Volume:24 Page:774-785
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Nagaya Satomi¹²^ORCID,Akiyama Masashi³,Murakami Morika²,Sekiya Akiko²,Asakura Hidesaku⁴,Morishita Eriko²⁴

Affiliation:

1. Asanogawa General Hospital; Kanazawa Ishikawa Japan

2. Department of Clinical Laboratory Science; Kanazawa University Graduate School of Medical Science; Kanazawa Ishikawa Japan

3. Department of Molecular Pathogenesis; National Cerebral and Cardiovascular Center Research Institute; Osaka Japan

4. Department of Hematology; Kanazawa University Hospital; Kanazawa Ishikawa Japan

Funder

Ministry of Health, Labour and Welfare

Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.13606/fullpdf

Reference23 articles.

1. Inherited factor X deficiency: molecular genetics and pathophysiology;Cooper;Thromb Haemost,1997

2. Cloning and expression in COS-1 cells of a full-length cDNA encoding human coagulation factor X;Messier;Gene,1991

3. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene;Herrmann;Haemophilia,2006

4. Site-directed mutagenesis by overlap extension using the polymerase chain reaction;Ho;Gene,1989

5. A case of factor X (FX) deficiency due to novel mutation V196M, FX Hofu;Shinohara;Int J Hematol,2008

Cited by 6 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. Congenital Factor X Deficiency, Diagnosis, and Management;Congenital Bleeding Disorders;2023

2. Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree;Genes;2021-09-27

3. Management of a hemispherotomy for Rasmussen encephalitis in a patient with mild factor 10 deficiency and low von Willebrand factor levels;Haemophilia;2021-02-06

4. Molecular mechanism of a novel Ser362Asn mutation causing inherited FX deficiency in a Chinese family;International Journal of Hematology;2020-04-13

5. Genetic analysis of a compound heterozygous patient with congenital factor X deficiency and regular replacement therapy with a prothrombin complex concentrate;International Journal of Hematology;2019-10-30

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