Congenital dysfibrinogenemia caused by γAla327Val mutation: structural abnormality of D region
نویسندگان
چکیده
منابع مشابه
Congenital dysfibrinogenemia: fibrinogen Detroit.
A 17 yr old female with a congenital bleeding disorder was found to suffer from dysfibrinogenemia. Whole blood and plasma coagulation times were delayed and thrombelastograms were grossly abnormal. Clottability of plasma fibrinogen by addition of thrombin was not demonstrated during the 30 min test period. Fibrinogen was revealed by turbidometric and immunologic techniques. Other coagulation fa...
متن کاملA Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment
OBJECTIVES Congenital dysfibrinogenemia is a rare hereditary disease characterized by normal antigen level but lower function level of fibrinogen. Patients with congenital dysfibrinogenemia usually present as bleeding and/or thrombotic events. In this study, we explored the genetic abnormality and clinical treatment of a Chinese family with dysfibrinogenemia. METHODS This study was conducted ...
متن کاملDysphagia lusoria caused by a complex congenital vascular abnormality.
A 77-year-old Caucasian woman presented to our hospital with difficulty swallowing solid food and weight loss during the past 2 years. She did not drink alcohol or smoke. Her physical examination and her past medical history were unremarkable. Radiograph of the chest showed a right-sided aortic arch (Figure 1). A barium esophagogram was performed. A double indentation at the level of the aortic...
متن کاملextremal region detection guided by maxima of gradient magnitude
a problem of computer vision applications is to detect regions of interest under dif- ferent imaging conditions. the state-of-the-art maximally stable extremal regions (mser) detects affine covariant regions by applying all possible thresholds on the input image, and through three main steps including: 1) making a component tree of extremal regions’ evolution (enumeration), 2) obtaining region ...
Congenital myopathy is caused by mutation of HACD1
Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-s...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Hematology
سال: 2021
ISSN: 1607-8454
DOI: 10.1080/16078454.2021.1893977