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Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Authors
 J Kim ; J Song ; K-A Lee ; H Kim ; JR Choi ; JH Yoo ; YC Choi ; SH Oh ; YR Kim ; CJ Lyu 
Citation
 Clinical Genetics, Vol.82(2) : 180~186, 2012 
Journal Title
 Clinical Genetics 
ISSN
 0009-9163 
Issue Date
2012
Abstract
The aim of this study was to investigate a mutation spectrum of F11 among Korean patients with factor XI (FXI) deficiency and to determine the haplotypes of mutations frequently found in Koreans. Thirteen unrelated patients from non-consanguineous families with FXI deficiency were included in the study. In the mutation analysis, the most frequently found mutations were Q263X (four cases; 31%) and Q226X (three cases; 23%). The frequency of Q263X-bearing haplotype was significantly different between normal and patient groups (p = 0.001), which is consistent with a founder effect of Q263X mutation. Testing for the presence of these two mutations should be the first genetic screening in Korean patients with FXI deficiency.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/90022
DOI
10.1111/j.1399-0004.2011.01732.x
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Laboratory Medicine
1. 연구논문 > 1. College of Medicine > Dept. of Internal Medicine
1. 연구논문 > 1. College of Medicine > Dept. of Pediatrics
1. 연구논문 > 1. College of Medicine > Dept. of Neurology
Yonsei Authors
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Link
 http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2011.01732.x/abstract
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