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

 J Kim  ;  J Song  ;  CJ Lyu  ;  YR Kim  ;  SH Oh  ;  YC Choi  ;  JH Yoo  ;  JR Choi  ;  H Kim  ;  K-A Lee 
 Clinical Genetics, Vol.82(2) : 180-186, 2012 
Journal Title
 Clinical Genetics 
Issue Date
Adolescent ; Adult ; Aged ; Amino Acid Sequence ; Asian Continental Ancestry Group/genetics* ; Base Sequence ; Child ; Factor XI/genetics* ; Factor XI Deficiency/genetics* ; Female ; Founder Effect* ; Haplotypes ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation* ; Phenotype ; Polymorphism, Genetic ; Republic of Korea ; Young Adult
F11 ; factor XI deficiency ; Koreans ; mutation spectrum
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.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Yu Ri(김유리) ORCID logo https://orcid.org/0000-0001-5505-0142
Kim, Ju Won(김주원)
Kim, Heejung(김희정) ORCID logo https://orcid.org/0000-0002-0190-703X
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Oh, Seung Hwan(오승환) ORCID logo https://orcid.org/0000-0003-0829-0711
Lyu, Chuhl Joo(유철주) ORCID logo https://orcid.org/0000-0001-7124-7818
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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