Identification of a point mutation in factor XIII A subunit deficiency
نویسندگان
چکیده
منابع مشابه
Factor XIII deficiency: a review of literature
Coagulaon factor XIII gene, protein structure and funcon Coagulaon factor XIII (FXIII) is a tetrameric (FXIII- A2B2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. Congenital FXIII deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a fre...
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coagulaon factor xiii gene, protein structure and funcon coagulaon factor xiii (fxiii) is a tetrameric (fxiii- a2b2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. congenital fxiii deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a freque...
متن کاملCurrent understanding in diagnosis and management of factor XIII deficiency
Factor XIII or "fibrin-stabilizing factor," is a transglutaminase circulates in the blood circulation as a hetero tetramer with two catalytic A subunits and two carrier B subunits. This important coagulation factor has a crucial role in clotting cascade and produces strong covalent bonds between soluble formed fibrin monomers during coagulation. This stable cross linked fibrin strands are resis...
متن کاملCongenital factor XIII deficiency in a neonate.
Pelvic examination showed that it was normal and adequate for vaginal delivery. Her haemoglobin at the time of booking was 12 g/dl, group 0, rhesus positive. Haemoglobin electrophoretic pattern was A+C. Serological test was negative. Urine analysis showed no abnormality. The pregnancy progressed normally and she went into labour spontaneously at term. On 18 February 1976, after being in labour ...
متن کاملCongenital factor XIII deficiency in a neonate
Pelvic examination showed that it was normal and adequate for vaginal delivery. Her haemoglobin at the time of booking was 12 g/dl, group 0, rhesus positive. Haemoglobin electrophoretic pattern was A+C. Serological test was negative. Urine analysis showed no abnormality. The pregnancy progressed normally and she went into labour spontaneously at term. On 18 February 1976, after being in labour ...
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ژورنال
عنوان ژورنال: Blood
سال: 1992
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v80.4.937.937