Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency.
10.3343/alm.2014.34.4.332
- Author:
Seung Jun CHOI
1
;
Juwon KIM
;
Kyung A LEE
;
Jong Rak CHOI
;
Jongha YOO
Author Information
1. Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. jhyooken@gmail.com
- Publication Type:Case Reports ; Letter
- MeSH:
Adolescent;
Asian Continental Ancestry Group/*genetics;
Child;
Exons;
Factor XI/*genetics;
Factor XI Deficiency/*diagnosis/genetics;
Female;
Genetic Testing;
Genotype;
Heterozygote;
Humans;
Male;
Mutation, Missense;
Partial Thromboplastin Time;
Pedigree;
Republic of Korea;
Sequence Analysis, DNA
- From:Annals of Laboratory Medicine
2014;34(4):332-335
- CountryRepublic of Korea
- Language:English
-
Abstract:
No abstract available.
