948 resultados para Read, Guy Martin
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Titre original : Memoirs of a revolutionist
Resumo:
Roger Martin du Gard, como su héroe Antoine Thibault, nace en 1881, coincidiendo con los primeros años de la Tercera República. La bistotia de su tiempo, los acontecimientos que la configuran desempeñan un papel muy importante a lo largo de su obra. Martin du Gard es reacio a describir momentos históricos que no ha podido vivir directamente. Le gusta novelar sobre la base de hechos acaecidos en el tiempo en que vive. Así, todas sus obras publicadas se desarrollan teniendo como telón de fondo el acontecer histórico contemporáneo. Unicamente en una de sus primeras novelas inacabadas e inéditas, fine vie de Sainí, evoca la guerra con la que culmina el Segundo Imperio, que encuentra su fin en el desastre de Sedán. El ambiente social, los hechos históricos descritos en la ficción novelesca coinciden plenamente con los acontecimientos reales que tuvieran lugar durante la vida del autor.
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Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).
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Digitoitu valokuvasta, joka on julkaistu kirjassa: R. Knapas & P. Koistinen, Historiallisia kuvia, 1993.