Konu "Mutation" için Tıp Fakültesi Koleksiyonu listeleme
Toplam kayıt 5, listelenen: 1-5
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Association of a point mutation (m.9176T > G) of the MT-ATP6 gene with Leigh syndrome: A case report
(Biomedpress, 2020)Leigh Syndrome (LS) is an uncommon progressive neurodegenerative mitochondrial disorder. The condition is characterized by progressive mental and developmental disabilities (psychomotor regression) and commonly brings about ... -
Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort
(Springer Heidelberg, 2020)The aims of this study were to investigate the main clinical and laboratory features, including pregnancy and genetic analysis, of Turkish Familial Mediterranean Fever (FMF) patients and to analyze the relationships between ... -
Genetic Risk Factors in Chronic Obstructive Pulmonary Disease
(Wolters Kluwer Medknow Publications, 2012)The role of genetic factors in development of chronic obstructive pulmonary disease (COPD) is accepted in general. However, other than alpha-1 antitrypsin deficiency which alone can lead to COPD, the studies performed ... -
Next generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer
(Elsevier Inc., 2020)Mutations in two major breast cancer susceptibility genes, BRCA1 and BRCA2, have been identified to be the most important predisposing factors for the development of breast cancer. Thus, BRCA1/2 testing is a well-established ... -
Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics
(Academic Press Inc., 2020)Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of ...