Evaluation of Clinical and Molecular Features of 20 Patients with Urea Cycle Enzyme Deficiency: Cukurova University Experience with Eight New Mutations
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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...
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abstract while task-based instruction is considered as the most effective way to learn a language in the related literature, it is oversimplified on various grounds. different variables may affect how students are engaged with not only the language but also with the task itself. the present study was conducted to investigate language and task related engagement on the basis of the task typolog...
15 صفحه اولdetection of volatile compounds of medicinal plants with some nano-sorbents using modified or new methodologies and investigation of antioxidant activity of their methanolic extracts
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Clinical and Molecular Genetic Analysis of Iranian Patients with Neonatal Diabetes demonstrating Mutations in KCNJ11 gene
Abstract We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R (No Locus, GU170814; 2009) was identified in the kir6.2, the pore-forming subunit of the KATP ...
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ژورنال
عنوان ژورنال: Turkish Journal of Pediatric Disease
سال: 2018
ISSN: 1307-4490,2148-3566
DOI: 10.12956/tjpd.2018.397