Πλοήγηση ανά Θέμα "DELETIONS"
Αποτελέσματα 1-3 από 3
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Hereditary angioedema in Greek families caused by novel and recurrent mutations
(2009)This study constitutes the first molecular analysis of hereditary angioedema (HAE) in Greece, where 11 patients from three unrelated families with recurrent angioedema attacks and decreased C1 inhibitor antigenic levels ... -
Microsatellite instability and loss of heterozygosity at the MEN1 locus in lung carcinoid tumors: A novel approach using real-time PCR with melting curve analysis in histopathologic material
(2006)The possible causes and genetic mechanisms of pulmonary carcinoid tumor development are unclear. In this study, we examined genetic alterations at the MEN1 locus in archival material from 15 pulmonary carcinoids. We employed, ... -
Novel Twinkle (PE01) gene mutations in mendelian progressive external ophthalmoplegia
(2008)Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved ...