Encontrados 5 documentos, a visualizar página 1 de 1

Uma abordagem geoambiental no estudo dos subterrâneos da cidade do Porto : o ca...

The CAG repeat at the Huntington disease gene in the Portuguese population : in...

Huntington disease (HD) is caused by an expansion of a CAG repeat. This repeat is a dynamic mutation that tends to undergo intergenerational instability. We report the analysis of the CAG repeat in a large population sample (2,000 chromosomes) covering all regions of Portugal, and a haplotype study of (CAG)n and (CCG)n repeats in 140 HD Portuguese families. Intermediate class 2 alleles represented 3.0% of the p...

Urban hydrogeomorphology and geology of the Porto metropolitan area (NW Portuga...

Paranhos spring galleries catchworks from Porto urban area (NW Portugal) : a ge...

This multidisciplinary study presents the preliminary results of the structural geology and geotechnical studies of a granitic rock-mass block delimitation. In addition, hydrogeological and ecotoxicological methods were used to assess the nature and suitability for use of groundwater from spring horizontal galleries catchworks located in Porto urban area. These springs represented one of the main water supplies...

Molecular diagnosis of Huntington disease in Portugal : implications for geneti...

Huntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic te...