Document Detail


Double heterozygous mutations Gln100Leu and His348Gln of the F7 gene in a patient with factor VII deficiency.
MedLine Citation:
PMID:  23358202     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
A 25-year-old Chinese woman who had a history of easy bruising was admitted to hospital due to uncontrolled epistaxis. She showed factor VII activity level of 2% and factor VII antigen level of 4% of the normal value. We detected a novel missense mutation g.8355 A>T (p.Gln100Leu) in the second epidermal growth factor-like (EGF) domain and a g.11482 T>G (p.His348Gln) in the catalytic domain. Although the Gln100 residue is close to the junction of EGF-2 domain with the serine protease domain, we infer that the substitution of polar negatively charged Gln residue at the position 100 with introduction of nonpolar Leu residue may be likely to perturb proper folding, resulting in decreasing factor VII activity.
Authors:
Min Li; Fangxiu Zheng; Yanhui Jin; Mingshan Wang; Liqing Zhu; Lihong Yang
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis     Volume:  24     ISSN:  1473-5733     ISO Abbreviation:  Blood Coagul. Fibrinolysis     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-01-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102551     Medline TA:  Blood Coagul Fibrinolysis     Country:  England    
Other Details:
Languages:  eng     Pagination:  199-201     Citation Subset:  IM    
Affiliation:
aSchool of Laboratory Medicine, Wenzhou Medical College bDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical College, Lucheng district, Wenzhou, China.
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