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A Gly1609Arg missense mutation in the vWF gene in a Korean patient with von Willebrand disease type 2A

Authors
 Seung Jun Choi ; Eun-Young Lee ; Jong-Ha Yoo ; Jong-Rak Choi ; Jaewoo Song ; Kyung-A Lee ; Hee-Jin Kim 
Citation
 Annals of Clinical and Laboratory Science, Vol.42(1) : 98~102, 2012 
Journal Title
 Annals of Clinical and Laboratory Science 
ISSN
 0091-7370 
Issue Date
2012
Abstract
We describe a case of a c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation in the gene encoding von Willebrand factor (vWF) in a Korean patient with von Willebrand disease (vWD) type 2A. The proband is a 37-year-old female who suffers from dysmenorrhea and menorrhagia. On laboratory testing, we found a low (0.01) vWF:RCo/Ag ratio, a decrease in high and intermediate molecular weight multimers from plasma, and abnormalities in the collagen binding capacity of plasma vWF, all of which were indicative of vWD type 2. Family studies revealed that her sister, son, and daughter also had a low vWF:RCo/ Ag ratio and a decrease in high molecular weight multimers from plasma. Genetic analyses showed that she and her three family members had the same heterozygous c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation. To our knowledge, this is the first report of the c.4825G>A (p.Gly1609Arg [Gly846Arg]) heterozygote mutation in Korean family members with vWD type 2A.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/89489
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Laboratory Medicine
Yonsei Authors
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Link
 http://www.annclinlabsci.org/content/42/1/98.long
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