Molecular Characterization of FXI Deficiency
نویسندگان
چکیده
منابع مشابه
Molecular and Clinical Characterization of 7 Iranian Patients with Severe Congenital Factor V Deficiency: Identification of 4 Novel Mutations
Background and Aims: Congenital factor V (FV) deficiency is a rare bleeding disorder with 1 in 1000000 persons in the general population. Individuals with FV activity <1% and very low FV antigen levels are characterized as severe FV deficient patients. Little data is available about the molecular basis of this bleeding disorder in Iran. Materials and Methods: We analyzed 7 unrelated Iranian FV...
متن کاملClinical, biochemical and molecular characterization of prosaposin deficiency.
Prosaposin (PSAP) deficiency is an ultra-rare, fatal infantile lysosomal storage disorder (LSD) caused by variants in the PSAP gene, with seven subjects reported so far. Here, we provide the clinical, biochemical and molecular characterization of two additional PSAP deficiency cases. Lysoplex, a targeted resequencing approach was utilized to identify the variant in the first patient, while quan...
متن کاملMolecular characterization of glucose-6-phosphate dehydrogenase deficiency in Turkey.
Sir, Red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency is not rare in Turkey. The frequency of this enzyme deficiency in Turkish males was reported to vary between 0.5-11.4% depending upon geographical areas and/or ethnic groups.1,2 Molecular studies of red cell G6PD enzyme revealed the presence of about 122 mutations which were recently reviewed by Vulliamy et al.3 Enzyme deficiency...
متن کاملMolecular Characterization of Cosenza Mutation among Patients with Glucose-6-Phosphate Dehydrogenase Deficiency in Khuzestan Province, Southwest Iran
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of Iran. Therefore in the present...
متن کاملMolecular Characterization of Aureobasidium Species in Iran
Background: Members of this genus Aureobasidium are ubiquitous microorganisms which can be isolated from wide ranges of substrates such as plant materials (phyllosphere, plant debris, bark, roots, fruits and wood), soil, dead wood, air, and as rare etiologic agent of pheohyphomycosis, keratomycosis, septicemia, peritoneal sepsis, and dermatological infections in human. Very little is known on t...
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: Clinical and Applied Thrombosis/Hemostasis
سال: 2010
ISSN: 1076-0296,1938-2723
DOI: 10.1177/1076029609355587