A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients

被引：6
|
作者：
D'Ambrosio, Rosa
Santacroce, Rosa
Di Perna, Pasquale
Sarno, Michela
Romondia, Arturo
Margaglione, Maurizio
机构：
[1] Univ Foggia, Cattedra Genet Med, Dipartimento Sci Biomed, I-71100 Foggia, Italy
[2] IRCCS Casa Sollievo Sofferenza, Unita Aterosclerosi & Trombosi, San Giovanni Rotondo, Italy
来源：
BLOOD COAGULATION & FIBRINOLYSIS | 2007年 / 18卷 / 02期
关键词：
bleeding; factor V and factor VIII deficiency; gene; LMAN1; mutation;
D O I：
10.1097/MBC.0b013e328012b615
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Combined factor V and factor VIII deficiency (F5F8D) is an extremely rare worldwide congenital hemorrhagic disorder that is more prevalent in the Mediterranean area. We report the clinical presentations and the identification of a LMAN1 mutation in a 3-year-old Italian boy who was diagnosed with F5F8D. The mutation identified (M1T) has already been found in several Italian patients. Since the LMAN1 M1T mutation has been identified in most patients with F5F8D, we suggest that the search for this mutation should be the first step in the molecular characterization of patients from an Italian ethnic background.
引用
收藏
页码：203 / 204
页数：2
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