Investigation of von Willebrand Factor Gene Mutations in Korean von Willebrand Disease Patients
Author:
Affiliation:
1. Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea
Funder
Korean Hemophilia Foundation
Yonsei University
Publisher
Annals of Laboratory Medicine
Subject
Biochemistry, medical,Clinical Biochemistry,General Medicine
Link
https://synapse.koreamed.org/pdf/10.3343/kjlm.2007.27.3.169
Reference35 articles.
1. Von Willebrand Disease: A Database of Point Mutations, Insertions, and Deletions
2. Recessive inheritance of von Willebrand's disease type I
3. The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor
4. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor
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1. Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses;Annals of Laboratory Medicine;2019-11-01
2. A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing;Pediatric Blood & Cancer;2018-06-12
3. Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia;Journal of Pediatric Hematology/Oncology;2017-08
4. A Case of Type 2N von Willebrand Disease with Homozygous R816W Mutation of the VWF Gene in a Nepalese Woman;Annals of Laboratory Medicine;2008-08-01
5. von Willebrand Disease in Childhood Chronic ITP;The Korean Journal of Hematology;2008
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