Mutations that modify the amino acid sequence of C1-INH (except Val458Met) are associated with HAE. More than 200 different mutations scattering the entire C1-INH gene have been reported. The main objective of this study was to report the mutational findings in a HAE cohort of 138 Portuguese patients followed in specialized consultation all over the country. DNA was extracted from peripheral bl...

BACKGROUND Increasing evidence points to a negative correlation between K-ras mutations and patient's response to, or survival benefit after, treatment with EGFR-inhibitors. Therefore, rapid and reliable assays for mutational analysis of the K-ras gene are strongly needed. METHODS We designed a high resolution melting (HRM) technology-based approach followed by direct sequencing to determine ...

Hematological malignancies with FGFR1 abnormality (8p11 myeloproliferative syndrome; EMS) are rare atypical stem cell disorders characterized by eosinophilia, T-cell proliferation and progression to acute myeloid leukemia. In EMS, fibroblast growth factor receptor 1 (FGFR1) gene at 8p11 is disrupted by chromosomal translocation, resulting in the formation of chimeric products with various partn...

abstract objective ethylmalonic encephalopathy (ee) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs and vascular lesions including petechial purpura, orthostatic acrocyanosis and chronic hemorrhagic diarrhoea. biochemical hallmarks of the disease are persistently high levels of lactate, and c4–c5-ac...

The purpose of the study was to detect the AluI and DdeI polymorphisms within POU1F1 gene exon 6 and 3'UTR region in Turkish sheep breeds, and their association with milk productive traits. Jugular blood samples were collected from 50 Sakiz, 50 White Karaman, and 50 Awassi sheep using EDTA as an anticoagulant. PCR-RFLP and sequencing analysis were performed to investigate possible polymorphisms...

OBJECTIVE Warfarin is a commonly prescribed anticoagulant for prevention of thromboembolic events. Wide inter-individual dose variation, narrow therapeutic range and risk of serious bleeding result in difficulties in achieving the therapeutic effect. The present study was designed to clarify the real biological significance of the polymorphisms of VKORC1 and cytochrome P450 2C9 (CYP2C9) in warf...

BACKGROUND The 516G > T polymorphism in exon 4 of the CYP2B6 gene has been associated with increased plasma Efavirenz (EFV) concentrations. EFV concentrations greater than the recommended therapeutic range have been associated with the increased likelihood of developing adverse CNS effects. The aims of this study were to a) determine the presence of the 516G > T and other CYP2B6 exon 4 polymorp...

To investigate the prevalence and genotype-phenotype correlations of phosphatase tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD) patients, we analyzed 1700 patients (842 familial PD 858 sporadic from Japanese origin). We screened entire exon exon-intron boundaries PINK1 using Sanger sequencing target by Ion torrent system. identified 30 with heterozygous va...

BACKGROUND Definitive diagnosis of primary hyperoxaluria type 1 (PH1) requires analysis of alanine:glyoxylate aminotransferase (AGT) activity in the liver. We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy. Havi...