Search results for "Single family"
showing 3 items of 3 documents
Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes
2019
BACKGROUND Hereditary angioedema (HAE) is a group of genetic diseases characterized by recurrent, painful and potentially lethal tissue swelling. The most common form results from mutations in the SERPING1 gene, leading to reduced function of complement 1 inhibitor (C1-INH). Rarer forms with normal C1-INH may arise from mutations in the coagulation factor F12 gene, but mostly the genetic background is unknown. Recently, a novel HAE mutation in the plasminogen (PLG) gene was shown. PATIENTS AND METHODS We analyzed the various clinical manifestations of HAE in 14 related patients using clinical data, biochemical analysis for C1-INH and C4 as well as gene sequencing. RESULTS Patients' symptoms…
Biomolecular study of the human remains from tomb 5859 in the Etruscan necropolis of Monterozzi Tarquinia (Vitarbo, Italy)
2004
Abstract Archaeological excavation in an Etruscan room tomb, from the Monterozzi necropolis in Tarquinia led to the recovery of four individuals. It was hypothesized that they could be members of a single family group. As both archaeological data and classical anthropological analysis provided little information in this direction, ancient DNA (aDNA) was extracted from bone and tooth fragments of the individuals. For each subject HVR-I of the mitochondrial DNA (mtDNA) was cloned and sequenced. To identify the sex of the individuals, amelogenine and SRY genes were analysed. Short tandem repeat (STR) characterization was also performed. DNA studies were preceded by the evaluation of amino acid…
Costruzioni semplici : nove case nella campagna siciliana
2017
Il libro descrive nove case progettate da Michele Sbacchi nella campagna di Menfi. sono descritti il Il metodo e lo sviluppo dei progetti, nonchè alcune nozioni alla base di essi quali quelle di "costruzione" e "semplicità", nonchè un analisi dei luoghi. Si tratta della costa meridionale della Sicilia, tra Selinunte ed Agrigento, una campagna di grande fascino, quasi tutta coltivata con vigneti e uliveti. È quello che rimane del feudo dei Pignatelli Aragona Cortes, oggi territorio agricolo di prestigio internazionale. I progetti affrontano il rapporto tra il mosaico agrario e gli edifici, proponendo un’architettura che sia semplice nel metodo e nei rapporti tra le singole parti. Il concetto…