The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T)-Reference-Cited by-同舟云学术

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The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T)

Published:2019-03-31 Issue:2 Volume:39 Page:229-231
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Ryu Sohee¹,Gu Ja-Yoon,B.S. ²,Hong Kyung Taek³,Han Doo Hee⁴,Kim Hyun Kyung¹²^ORCID

Affiliation:

1. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea

2. Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea

3. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

4. Department of Otorhinolaryngology, Seoul National University College of Medicine, Seoul, Korea

Funder

National Research Foundation of Korea

Ministry of Science, ICT and Future Planning

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2019.39.2.229

Reference10 articles.

1. Congenital prekallikrein deficiency

2. Prekallikrein deficiency

3. Genomic Structure of the Human Plasma Prekallikrein Gene, Identification of Allelic Variants, and Analysis in End-Stage Renal Disease

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Cited by 2 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. A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System;Journal of Investigative Medicine High Impact Case Reports;2021-01

2. Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence;Journal of Thrombosis and Haemostasis;2020-05-15

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