A Trp33Arg Mutation at Exon 1 of theMYH9Gene in a Korean Patient with May-Hegglin Anomaly-Reference-Cited by-同舟云学术

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A Trp33Arg Mutation at Exon 1 of theMYH9Gene in a Korean Patient with May-Hegglin Anomaly

Published:2012 Issue:3 Volume:53 Page:662
ISSN:0513-5796
Container-title:Yonsei Medical Journal
language:en
Short-container-title:Yonsei Med J

Author:

Jang Moon Ju¹,Park Hyun-Jeong¹,Chong So Young¹,Huh Ji Young²,Kim In-Ho³,Jang Ja-Hyun⁴,Kim Hee-Jin⁴⁵,Oh Doyeun¹

Affiliation:

1. Department of Internal Medicine, School of Medicine, CHA University, Seongnam, Korea.

2. Department of Laboratory Medicine, School of Medicine, CHA University, Seongnam, Korea.

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

4. Department of Laboratory Medicine & Genetics, Sungkyunkwan University School of Medicine, Seoul, Korea.

5. Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Publisher

Yonsei University College of Medicine

Subject

General Medicine

Link

https://synapse.koreamed.org/pdf/10.3349/ymj.2012.53.3.662

Cited by 11 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. MYH9-Related Disorder (MYH9-RD): An Under-Recognized Family of Giants Among the Inherited Thrombocytopenias;Cureus;2024-02-28

2. Neonatal Thrombocytopenia due to MYH9 Missense Mutation: A Case Report;Perinatology;2022

3. Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing;Journal of Pediatric Hematology/Oncology;2020-04

4. Genetic classification and confirmation of inherited platelet disorders: current status in Korea;Clinical and Experimental Pediatrics;2020-03-15

5. A novel de novo MYH9 mutation in MYH9-related disease;Medicine;2020-01

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