A Japanese patient with hereditary angioedema caused by deep intron variation in the <i>SERPING1</i> gene-Reference-Cited by-同舟云学术

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A Japanese patient with hereditary angioedema caused by deep intron variation in the SERPING1 gene

Published:2023-05-08 Issue:9 Volume:50 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Hida Tokimasa¹^ORCID,Ishikawa Aki²,Okura Masae¹,Kishibe Mari³^ORCID,Uhara Hisashi¹^ORCID

Affiliation:

1. Department of Dermatology Sapporo Medical University School of Medicine Sapporo Japan

2. Department of Medical Genetics Sapporo Medical University School of Medicine Sapporo Japan

3. Department of Dermatology Asahikawa Medical University Asahikawa Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16817

Reference5 articles.

1. The international WAO/EAACI guideline for the management of hereditary angioedema—The 2021 revision and update

2. Tissue factor expression on the surface of monocytes from a patient with hereditary angioedema

3. A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency

4. SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE

5. Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

Cited by 1 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. Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort;Journal of Clinical Immunology;2023-08-25

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