نتایج جستجو برای: predominant mutations
تعداد نتایج: 215817 فیلتر نتایج به سال:
background and objectives: the aim of this study was to investigate the significance of multiple-mutations in the katg gene, predominant nucleotide changes and its correlation with high level of resistance to isoniazid in mycobacterium tuberculosis isolates that were randomly collected from sputa of 42 patients with primary and secondary active pulmonary tuberculosis from different geographic r...
We study compact non-supersymmetric Z N orbifolds in various dimensions. We compute the spectrum of several tachyonic type II and heterotic examples and partially classify tachyon-free heterotic models. We also discuss the relation to compactification on K3 and Calabi-Yau manifolds.
despite the enormous heterogeneity of genetic hearing loss, mutations in the gjb2 (connexin 26) gene located on “dfnb1” locus (13q12) account for up to 50% of cases of autosomal recessive non-syndromic hearing loss (arnshl) in some populations. this study describes the analysis of 100 autosomal recessive and sporadic nonsyndromic hearing loss individuals from 79 families each having at least on...
background: to glean insights into the relationship among hepatitis b virus (hbv) genotype/subgenotypes, a1762t/g1764a mutations and advanced liver disease such as liver cirrhosis (lc) and hepatocellular carcinoma (hcc) in southeast china. methods: a case-control study was performed, consisting of chronic hepatitis b (chb) patients (n=160), lc patients (n=150), and hcc patients (n=156). fluores...
conclusions these data will be beneficial for designing more advanced antibodies for the recognition of the hbsag in diagnostics. in addition, the results of this study may assist in the design or development of more effective hepatitis b vaccines. results the g145r mutation causes a considerable reduction in the immunogenic activity of the hbsag through a conformational change in the hbsag ant...
Background: Approximately 180 mutations have been described in β-thalassemia worldwide with specific spectrum in each ethnic population. This study determines the spectrum and the frequency of β-thalassemia mutations in patients with β-thalassemia trait and sickle cell-β-thalassemia. Methods: Fifteen compound heterozygous sickle cell thalassemia (SCT) and 23 β-thalassemia trait patients were st...
Background & Aims: Thyroid cancer is the most common endocrine malignancy. Medullary thyroid carcinoma (MTC) is an aggressive malignant tumor arising from parafollicular cells of the thyroid. MTC occurs in hereditary (25%, hMTC) or sporadic (75%, sMTC) forms. The hMTC form has an autosomal dominant inheritance. RET proto-oncogene mutations, especially the 10, 11, and 16 exones, are associated w...
PURPOSE Wilms' tumors (WTs) exhibit more than one pattern of differentiation, each of which is associated with distinctive clinical features and treatment responses. Mutations in the WT1 gene are found predominantly in WTs with stromal histology. To better understand the biological and clinical features in different WTs, we have analyzed WTs with and without WT1 mutations for a set of parameter...
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